9-2032954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032954
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032954
    reference: chr 9
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.228C>T
  hgvsp: ENST00000382203.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.228C>T
  hgvsp: ENST00000382194.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.228C>T
  hgvsp: ENST00000357248.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.107C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.228C>T
  hgvsp: ENST00000349721.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.228C>T
  hgvsp: ENST00000439732.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.228C>T
  hgvsp: ENST00000450198.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.228C>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

9-2032957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032957
    reference: chr 9
allele count: 170
allele frequency: 1.405260634516508e-3
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.231C>T
  hgvsp: ENST00000349721.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.231C>T
  hgvsp: ENST00000450198.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.231C>T
  hgvsp: ENST00000357248.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.231C>T
  hgvsp: ENST00000382203.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.231C>T
  hgvsp: ENST00000439732.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.110C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.231C>T
  hgvsp: ENST00000382194.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile77Ile
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-2032958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032958
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032958
    reference: chr 9
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.232G>A
  hgvsp: ENSP00000371629.1:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.232G>A
  hgvsp: ENSP00000392081.1:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.111G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.232G>A
  hgvsp: ENSP00000265773.5:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.232G>A
  hgvsp: ENSP00000349788.2:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.232G>A
  hgvsp: ENSP00000371638.1:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.232G>A
  hgvsp: ENSP00000409398.1:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp78Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

9-2032967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032967
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032967
    reference: chr 9
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.241C>G
  hgvsp: ENSP00000409398.1:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.241C>G
  hgvsp: ENSP00000349788.2:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.241C>G
  hgvsp: ENSP00000371629.1:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.241C>G
  hgvsp: ENSP00000371638.1:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.120C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.241C>G
  hgvsp: ENSP00000265773.5:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.241C>G
  hgvsp: ENSP00000392081.1:p.His81Asp
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His81Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/9-2032968-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032968
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032968
    reference: chr 9
allele count: 3
allele frequency: 2.473737157181259e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.242A>C
  hgvsp: ENSP00000371629.1:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.121A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.242A>C
  hgvsp: ENSP00000265773.5:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.242A>C
  hgvsp: ENSP00000392081.1:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.242A>C
  hgvsp: ENSP00000371638.1:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.242A>C
  hgvsp: ENSP00000349788.2:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.242A>C
  hgvsp: ENSP00000409398.1:p.His81Pro
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His81Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-2032970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032970
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032970
    reference: chr 9
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.244G>C
  hgvsp: ENSP00000371638.1:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.244G>C
  hgvsp: ENSP00000392081.1:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.244G>C
  hgvsp: ENSP00000409398.1:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.244G>C
  hgvsp: ENSP00000265773.5:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.244G>C
  hgvsp: ENSP00000371629.1:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.244G>C
  hgvsp: ENSP00000349788.2:p.Asp82His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.123G>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp82His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-2032972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032972
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032972
    reference: chr 9
allele count: 94
allele frequency: 7.747721016105369e-4
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.246C>T
  hgvsp: ENST00000357248.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.125C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.246C>T
  hgvsp: ENST00000450198.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.246C>T
  hgvsp: ENST00000382203.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.246C>T
  hgvsp: ENST00000439732.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.246C>T
  hgvsp: ENST00000349721.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.246C>T
  hgvsp: ENST00000382194.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp82Asp
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-2032976-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032976
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032976
    reference: chr 9
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.250G>C
  hgvsp: ENSP00000371638.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.250G>C
  hgvsp: ENSP00000409398.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.250G>C
  hgvsp: ENSP00000371629.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.250G>C
  hgvsp: ENSP00000349788.2:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.250G>C
  hgvsp: ENSP00000265773.5:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.250G>C
  hgvsp: ENSP00000392081.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.129G>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly84Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

9-2032990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032990
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032990
    reference: chr 9
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.264C>T
  hgvsp: ENST00000382194.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.264C>T
  hgvsp: ENST00000382203.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.264C>T
  hgvsp: ENST00000357248.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.143C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.264C>T
  hgvsp: ENST00000439732.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.264C>T
  hgvsp: ENST00000349721.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.264C>T
  hgvsp: ENST00000450198.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp88Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-2032993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2032993
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2032993
    reference: chr 9
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.146C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.267C>T
  hgvsp: ENST00000349721.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.267C>T
  hgvsp: ENST00000357248.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.267C>T
  hgvsp: ENST00000450198.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.267C>T
  hgvsp: ENST00000382194.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.267C>T
  hgvsp: ENST00000439732.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.267C>T
  hgvsp: ENST00000382203.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile89Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

9-2033003-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033003
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033003
    reference: chr 9
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.277T>A
  hgvsp: ENSP00000392081.1:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.277T>A
  hgvsp: ENSP00000371638.1:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.277T>A
  hgvsp: ENSP00000409398.1:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.277T>A
  hgvsp: ENSP00000265773.5:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.277T>A
  hgvsp: ENSP00000349788.2:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.156T>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.277T>A
  hgvsp: ENSP00000371629.1:p.Ser93Thr
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser93Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-2033005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033005
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033005
    reference: chr 9
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.279C>T
  hgvsp: ENST00000357248.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.158C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.279C>T
  hgvsp: ENST00000382194.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.279C>T
  hgvsp: ENST00000439732.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.279C>T
  hgvsp: ENST00000349721.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.279C>T
  hgvsp: ENST00000450198.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.279C>T
  hgvsp: ENST00000382203.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37611
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser93Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

9-2033006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033006
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033006
    reference: chr 9
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.159A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.280A>G
  hgvsp: ENSP00000371638.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.280A>G
  hgvsp: ENSP00000265773.5:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.280A>G
  hgvsp: ENSP00000371629.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.280A>G
  hgvsp: ENSP00000409398.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.280A>G
  hgvsp: ENSP00000392081.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.280A>G
  hgvsp: ENSP00000349788.2:p.Met94Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met94Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-2033012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033012
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033012
    reference: chr 9
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.286G>A
  hgvsp: ENSP00000371638.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.286G>A
  hgvsp: ENSP00000349788.2:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.286G>A
  hgvsp: ENSP00000392081.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.286G>A
  hgvsp: ENSP00000409398.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.286G>A
  hgvsp: ENSP00000265773.5:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.165G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.286G>A
  hgvsp: ENSP00000371629.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9015
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly96Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

9-2033017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033017
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033017
    reference: chr 9
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.291T>C
  hgvsp: ENST00000382194.1:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.291T>C
  hgvsp: ENST00000357248.2:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.291T>C
  hgvsp: ENST00000450198.1:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.291T>C
  hgvsp: ENST00000382203.1:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.170T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.291T>C
  hgvsp: ENST00000349721.2:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.291T>C
  hgvsp: ENST00000439732.1:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr97Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-2033030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033030
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033030
    reference: chr 9
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.304C>A
  hgvsp: ENSP00000371638.1:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.304C>A
  hgvsp: ENSP00000392081.1:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.304C>A
  hgvsp: ENSP00000349788.2:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.304C>A
  hgvsp: ENSP00000409398.1:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.183C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.304C>A
  hgvsp: ENSP00000265773.5:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.304C>A
  hgvsp: ENSP00000371629.1:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro102Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/9-2033031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033031
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033031
    reference: chr 9
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.184C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.305C>A
  hgvsp: ENSP00000349788.2:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.305C>A
  hgvsp: ENSP00000371629.1:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.305C>A
  hgvsp: ENSP00000265773.5:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.305C>A
  hgvsp: ENSP00000392081.1:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.305C>A
  hgvsp: ENSP00000409398.1:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.305C>A
  hgvsp: ENSP00000371638.1:p.Pro102His
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37613
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro102His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

9-2033036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033036
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033036
    reference: chr 9
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.310C>G
  hgvsp: ENSP00000371629.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.310C>G
  hgvsp: ENSP00000392081.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.189C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.310C>G
  hgvsp: ENSP00000349788.2:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.310C>G
  hgvsp: ENSP00000265773.5:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.310C>G
  hgvsp: ENSP00000371638.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.310C>G
  hgvsp: ENSP00000409398.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro104Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

9-2033037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033037
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033037
    reference: chr 9
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.311C>T
  hgvsp: ENSP00000371629.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.311C>T
  hgvsp: ENSP00000371638.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.311C>T
  hgvsp: ENSP00000349788.2:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.311C>T
  hgvsp: ENSP00000409398.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.190C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.311C>T
  hgvsp: ENSP00000265773.5:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.311C>T
  hgvsp: ENSP00000392081.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro104Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

9-2033042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033042
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033042
    reference: chr 9
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.316A>G
  hgvsp: ENSP00000371638.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.316A>G
  hgvsp: ENSP00000409398.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.195A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.316A>G
  hgvsp: ENSP00000265773.5:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.316A>G
  hgvsp: ENSP00000349788.2:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.316A>G
  hgvsp: ENSP00000371629.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.316A>G
  hgvsp: ENSP00000392081.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met106Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-2033046-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033046
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033046
    reference: chr 9
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.199G>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.320G>T
  hgvsp: ENSP00000392081.1:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.320G>T
  hgvsp: ENSP00000265773.5:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.320G>T
  hgvsp: ENSP00000409398.1:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.320G>T
  hgvsp: ENSP00000371638.1:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.320G>T
  hgvsp: ENSP00000371629.1:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.320G>T
  hgvsp: ENSP00000349788.2:p.Gly107Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly107Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-2033047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033047
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033047
    reference: chr 9
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.321C>T
  hgvsp: ENST00000450198.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.321C>T
  hgvsp: ENST00000349721.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.321C>T
  hgvsp: ENST00000439732.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.321C>T
  hgvsp: ENST00000382194.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.321C>T
  hgvsp: ENST00000382203.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.200C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.321C>T
  hgvsp: ENST00000357248.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37614
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8986
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly107Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

9-2033050-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033050
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033050
    reference: chr 9
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.324T>A
  hgvsp: ENST00000357248.2:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.324T>A
  hgvsp: ENST00000382203.1:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.203T>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.324T>A
  hgvsp: ENST00000450198.1:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.324T>A
  hgvsp: ENST00000382194.1:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.324T>A
  hgvsp: ENST00000349721.2:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.324T>A
  hgvsp: ENST00000439732.1:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37616
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro108Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

9-2033051-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033051
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033051
    reference: chr 9
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.325C>G
  hgvsp: ENSP00000349788.2:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.325C>G
  hgvsp: ENSP00000392081.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.325C>G
  hgvsp: ENSP00000371629.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.325C>G
  hgvsp: ENSP00000371638.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.325C>G
  hgvsp: ENSP00000409398.1:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.204C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.325C>G
  hgvsp: ENSP00000265773.5:p.Pro109Ala
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro109Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

9-2033051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033051
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033051
    reference: chr 9
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.325C>T
  hgvsp: ENSP00000349788.2:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.325C>T
  hgvsp: ENSP00000392081.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.325C>T
  hgvsp: ENSP00000265773.5:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.325C>T
  hgvsp: ENSP00000371629.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.325C>T
  hgvsp: ENSP00000409398.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.204C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.325C>T
  hgvsp: ENSP00000371638.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro109Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-2033063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033063
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033063
    reference: chr 9
allele count: 7
allele frequency: 5.769199070334778e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.337A>G
  hgvsp: ENSP00000371629.1:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.337A>G
  hgvsp: ENSP00000349788.2:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.337A>G
  hgvsp: ENSP00000392081.1:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.337A>G
  hgvsp: ENSP00000409398.1:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.337A>G
  hgvsp: ENSP00000265773.5:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.216A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.337A>G
  hgvsp: ENSP00000371638.1:p.Met113Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met113Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

9-2033079-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033079
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033079
    reference: chr 9
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.232A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.353A>G
  hgvsp: ENSP00000371629.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.353A>G
  hgvsp: ENSP00000371638.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.353A>G
  hgvsp: ENSP00000409398.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.353A>G
  hgvsp: ENSP00000349788.2:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.353A>G
  hgvsp: ENSP00000392081.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.353A>G
  hgvsp: ENSP00000265773.5:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln118Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-2033084-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033084
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033084
    reference: chr 9
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+3T>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 8.25e1
  variant carriers: 0
hgvs: c.355+3T>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

9-2033085-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033085
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033085
    reference: chr 9
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+4T>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: c.355+4T>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-2033090-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033090
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033090
    reference: chr 9
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+9C>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-2033091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033091
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033091
    reference: chr 9
allele count: 4
allele frequency: 3.303437226434105e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+10C>T
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-2033116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033116
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033116
    reference: chr 9
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+35C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+35C>T
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/9-2033120-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033120
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033120
    reference: chr 9
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+39A>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-2033120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033120
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033120
    reference: chr 9
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+39A>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-2033130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2033130
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2033130
    reference: chr 9
allele count: 34
allele frequency: 2.824764879864411e-4
allele num: 120364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.234+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.355+49A>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

9-2039415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039415
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039415
    reference: chr 9
allele count: 1
allele frequency: 8.742481465939292e-6
allele num: 114384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-51T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-51T>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

9-2039416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039416
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039416
    reference: chr 9
allele count: 2
allele frequency: 1.74800727171025e-5
allele num: 114416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-50T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-50T>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

9-2039421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039421
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039421
    reference: chr 9
allele count: 1
allele frequency: 8.733014287211374e-6
allele num: 114508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-45G>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-2039421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039421
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039421
    reference: chr 9
allele count: 1
allele frequency: 8.733014287211374e-6
allele num: 114508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-45G>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-2039425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039425
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039425
    reference: chr 9
allele count: 4
allele frequency: 3.489000924585245e-5
allele num: 114646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-41G>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-41G>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

9-2039426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039426
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039426
    reference: chr 9
allele count: 6
allele frequency: 5.233136218535768e-5
allele num: 114654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-40T>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

9-2039427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039427
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039427
    reference: chr 9
allele count: 1
allele frequency: 8.724328662909389e-6
allele num: 114622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-39C>T
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

9-2039429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039429
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039429
    reference: chr 9
allele count: 3
allele frequency: 2.613559144843448e-5
allele num: 114786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-37G>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-2039433-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039433
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039433
    reference: chr 9
allele count: 4
allele frequency: 3.478502852372339e-5
allele num: 114992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-33C>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31989
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

9-2039440-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039440
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039440
    reference: chr 9
allele count: 1
allele frequency: 8.62976578815651e-6
allele num: 115878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-26T>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-2039442-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039442
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039442
    reference: chr 9
allele count: 1
allele frequency: 8.609260120185271e-6
allele num: 116154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-24A>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

9-2039446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039446
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039446
    reference: chr 9
allele count: 16
allele frequency: 1.369464368248969e-4
allele num: 116834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-20C>T
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

9-2039451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039451
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039451
    reference: chr 9
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-15T>C
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

9-2039457-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039457
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039457
    reference: chr 9
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.235-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.356-9T>G
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

9-2039468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039468
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039468
    reference: chr 9
allele count: 3
allele frequency: 2.498376055563883e-5
allele num: 120078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.358T>C
  hgvsp: ENSP00000371638.1:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.358T>C
  hgvsp: ENSP00000371629.1:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.358T>C
  hgvsp: ENSP00000349788.2:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.358T>C
  hgvsp: ENSP00000392081.1:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.237T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.358T>C
  hgvsp: ENSP00000265773.5:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.358T>C
  hgvsp: ENSP00000409398.1:p.Tyr120His
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr120His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

9-2039473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039473
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039473
    reference: chr 9
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.242G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.363G>A
  hgvsp: ENSP00000371638.1:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.363G>A
  hgvsp: ENSP00000409398.1:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.363G>A
  hgvsp: ENSP00000265773.5:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.363G>A
  hgvsp: ENSP00000371629.1:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.363G>A
  hgvsp: ENSP00000349788.2:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.363G>A
  hgvsp: ENSP00000392081.1:p.Met121Ile
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met121Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

9-2039483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039483
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039483
    reference: chr 9
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.373C>G
  hgvsp: ENSP00000349788.2:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.373C>G
  hgvsp: ENSP00000265773.5:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.373C>G
  hgvsp: ENSP00000371638.1:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.252C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.373C>G
  hgvsp: ENSP00000409398.1:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.373C>G
  hgvsp: ENSP00000392081.1:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.373C>G
  hgvsp: ENSP00000371629.1:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro125Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

9-2039483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039483
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039483
    reference: chr 9
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.373C>T
  hgvsp: ENSP00000371629.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.373C>T
  hgvsp: ENSP00000265773.5:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.373C>T
  hgvsp: ENSP00000349788.2:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.373C>T
  hgvsp: ENSP00000409398.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.373C>T
  hgvsp: ENSP00000371638.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.373C>T
  hgvsp: ENSP00000392081.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.252C>T
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro125Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-2039496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039496
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039496
    reference: chr 9
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.386G>A
  hgvsp: ENSP00000409398.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.386G>A
  hgvsp: ENSP00000392081.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.386G>A
  hgvsp: ENSP00000371629.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.386G>A
  hgvsp: ENSP00000349788.2:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.386G>A
  hgvsp: ENSP00000265773.5:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.386G>A
  hgvsp: ENSP00000371638.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.265G>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly129Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/9-2039499-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039499
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039499
    reference: chr 9
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.268C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.389C>A
  hgvsp: ENSP00000392081.1:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.389C>A
  hgvsp: ENSP00000409398.1:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.389C>A
  hgvsp: ENSP00000371629.1:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.389C>A
  hgvsp: ENSP00000371638.1:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.389C>A
  hgvsp: ENSP00000265773.5:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.389C>A
  hgvsp: ENSP00000349788.2:p.Ala130Asp
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11066
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala130Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-2039501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039501
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039501
    reference: chr 9
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.391C>T
  hgvsp: ENSP00000265773.5:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.270C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.391C>T
  hgvsp: ENSP00000371629.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.391C>T
  hgvsp: ENSP00000371638.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.391C>T
  hgvsp: ENSP00000409398.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.391C>T
  hgvsp: ENSP00000392081.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.391C>T
  hgvsp: ENSP00000349788.2:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro131Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

9-2039508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039508
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039508
    reference: chr 9
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.398A>G
  hgvsp: ENSP00000392081.1:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.277A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.398A>G
  hgvsp: ENSP00000371629.1:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.398A>G
  hgvsp: ENSP00000409398.1:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.398A>G
  hgvsp: ENSP00000349788.2:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.398A>G
  hgvsp: ENSP00000371638.1:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.398A>G
  hgvsp: ENSP00000265773.5:p.His133Arg
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His133Arg
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

9-2039510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039510
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039510
    reference: chr 9
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.400G>A
  hgvsp: ENSP00000392081.1:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.400G>A
  hgvsp: ENSP00000371629.1:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.400G>A
  hgvsp: ENSP00000349788.2:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.400G>A
  hgvsp: ENSP00000409398.1:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.400G>A
  hgvsp: ENSP00000265773.5:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.400G>A
  hgvsp: ENSP00000371638.1:p.Val134Ile
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.279G>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val134Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-2039514-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039514
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039514
    reference: chr 9
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.283C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.404C>G
  hgvsp: ENSP00000371629.1:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.404C>G
  hgvsp: ENSP00000392081.1:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.404C>G
  hgvsp: ENSP00000371638.1:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.404C>G
  hgvsp: ENSP00000409398.1:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.404C>G
  hgvsp: ENSP00000265773.5:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.404C>G
  hgvsp: ENSP00000349788.2:p.Ser135Cys
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser135Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

9-2039522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039522
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039522
    reference: chr 9
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.291A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.412A>G
  hgvsp: ENSP00000409398.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.412A>G
  hgvsp: ENSP00000371629.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.412A>G
  hgvsp: ENSP00000371638.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.412A>G
  hgvsp: ENSP00000265773.5:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.412A>G
  hgvsp: ENSP00000392081.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.412A>G
  hgvsp: ENSP00000349788.2:p.Met138Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met138Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

9-2039525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039525
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039525
    reference: chr 9
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.415T>C
  hgvsp: ENSP00000349788.2:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.415T>C
  hgvsp: ENSP00000409398.1:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.294T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.415T>C
  hgvsp: ENSP00000392081.1:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.415T>C
  hgvsp: ENSP00000265773.5:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.415T>C
  hgvsp: ENSP00000371629.1:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.415T>C
  hgvsp: ENSP00000371638.1:p.Ser139Pro
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser139Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

9-2039542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039542
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039542
    reference: chr 9
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.432T>C
  hgvsp: ENST00000357248.2:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.432T>C
  hgvsp: ENST00000382203.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.311T>C
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.432T>C
  hgvsp: ENST00000450198.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.432T>C
  hgvsp: ENST00000439732.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.432T>C
  hgvsp: ENST00000382194.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.432T>C
  hgvsp: ENST00000349721.2:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr144Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-2039550-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039550
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039550
    reference: chr 9
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.440A>G
  hgvsp: ENSP00000349788.2:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.319A>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.440A>G
  hgvsp: ENSP00000371638.1:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.440A>G
  hgvsp: ENSP00000371629.1:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.440A>G
  hgvsp: ENSP00000265773.5:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.440A>G
  hgvsp: ENSP00000409398.1:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.440A>G
  hgvsp: ENSP00000392081.1:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln147Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-2039558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039558
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039558
    reference: chr 9
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.448C>A
  hgvsp: ENSP00000371638.1:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.448C>A
  hgvsp: ENSP00000409398.1:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.327C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.448C>A
  hgvsp: ENSP00000371629.1:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.448C>A
  hgvsp: ENSP00000265773.5:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.448C>A
  hgvsp: ENSP00000392081.1:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.448C>A
  hgvsp: ENSP00000349788.2:p.Pro150Thr
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro150Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

9-2039568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039568
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039568
    reference: chr 9
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.337C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.458C>T
  hgvsp: ENSP00000265773.5:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.458C>T
  hgvsp: ENSP00000409398.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.458C>T
  hgvsp: ENSP00000392081.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.458C>T
  hgvsp: ENSP00000371638.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.458C>T
  hgvsp: ENSP00000349788.2:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.458C>T
  hgvsp: ENSP00000371629.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro153Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-2039569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039569
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039569
    reference: chr 9
allele count: 9
allele frequency: 7.413264801818721e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.459G>A
  hgvsp: ENST00000382194.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.459G>A
  hgvsp: ENST00000349721.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.338G>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.459G>A
  hgvsp: ENST00000439732.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.459G>A
  hgvsp: ENST00000382203.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.459G>A
  hgvsp: ENST00000357248.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.459G>A
  hgvsp: ENST00000450198.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro153Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

9-2039571-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039571
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039571
    reference: chr 9
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.461G>T
  hgvsp: ENSP00000409398.1:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.461G>T
  hgvsp: ENSP00000265773.5:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.461G>T
  hgvsp: ENSP00000392081.1:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.461G>T
  hgvsp: ENSP00000349788.2:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.461G>T
  hgvsp: ENSP00000371629.1:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.340G>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.461G>T
  hgvsp: ENSP00000371638.1:p.Gly154Val
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly154Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

9-2039572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039572
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039572
    reference: chr 9
allele count: 372
allele frequency: 3.064199930808389e-3
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.462G>A
  hgvsp: ENST00000450198.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.462G>A
  hgvsp: ENST00000357248.2:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.462G>A
  hgvsp: ENST00000382194.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.462G>A
  hgvsp: ENST00000382203.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.462G>A
  hgvsp: ENST00000349721.2:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.462G>A
  hgvsp: ENST00000439732.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.341G>A
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly154Gly
num of homozygotes: 4
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

9-2039573-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039573
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039573
    reference: chr 9
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.342G>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.463G>T
  hgvsp: ENSP00000392081.1:p.Ala155Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000409398
  ensembl transcript: ENST00000439732
  gene symbol: SMARCA2
  hgvsc: ENST00000439732.1:c.463G>T
  hgvsp: ENST00000439732.1:c.463G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.463G>T
  hgvsp: ENSP00000265773.5:p.Ala155Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.463G>T
  hgvsp: ENSP00000371638.1:p.Ala155Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.463G>T
  hgvsp: ENSP00000349788.2:p.Ala155Ser
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.463G>T
  hgvsp: ENSP00000371629.1:p.Ala155Ser
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala155Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-2039581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039581
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039581
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.471C>A
  hgvsp: ENST00000382203.1:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.350C>A
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.471C>A
  hgvsp: ENST00000357248.2:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.471C>A
  hgvsp: ENST00000450198.1:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.471C>A
  hgvsp: ENST00000382194.1:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.471C>A
  hgvsp: ENST00000349721.2:c.471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile157Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

9-2039582-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039582
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039582
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.472C>G
  hgvsp: ENSP00000265773.5:p.Pro158Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.351C>G
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.472C>G
  hgvsp: ENSP00000349788.2:p.Pro158Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.472C>G
  hgvsp: ENSP00000371638.1:p.Pro158Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.472C>G
  hgvsp: ENSP00000392081.1:p.Pro158Ala
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.472C>G
  hgvsp: ENSP00000371629.1:p.Pro158Ala
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro158Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

9-2039592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2039592
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 2039592
    reference: chr 9
allele count: 11
allele frequency: 9.060507717905211e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080503
  ensembl transcript: ENST00000491574
  gene symbol: SMARCA2
  hgvsc: ENST00000491574.1:n.361C>T
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371638
  ensembl transcript: ENST00000382203
  gene symbol: SMARCA2
  hgvsc: ENST00000382203.1:c.482C>T
  hgvsp: ENSP00000371638.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000392081
  ensembl transcript: ENST00000450198
  gene symbol: SMARCA2
  hgvsc: ENST00000450198.1:c.482C>T
  hgvsp: ENSP00000392081.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000265773
  ensembl transcript: ENST00000349721
  gene symbol: SMARCA2
  hgvsc: ENST00000349721.2:c.482C>T
  hgvsp: ENSP00000265773.5:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000349788
  ensembl transcript: ENST00000357248
  gene symbol: SMARCA2
  hgvsc: ENST00000357248.2:c.482C>T
  hgvsp: ENSP00000349788.2:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/11098
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000080503
  ensembl protein: ENSP00000371629
  ensembl transcript: ENST00000382194
  gene symbol: SMARCA2
  hgvsc: ENST00000382194.1:c.482C>T
  hgvsp: ENSP00000371629.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/11098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Pro161Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37567
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 6.077e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 2.522663e6

GenotypeQuality
all individuals: 1401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37590
bin: 9.75e1
variant carriers: 169

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 152
allele frequency: 1.313288405045792e-2
allele num: 11574
num of homozygotes: 1

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

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.013068949977468e-5
allele num: 66570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.535295e6

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.129e-1

DP
type: SiteQuality
SIO_000300: 2.530841e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 6.21e0

GenotypeQuality
all individuals: 3131
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 8864
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variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.533373e6

QD
type: SiteQuality
SIO_000300: 1.498e1

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

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37588
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2429
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.533653e6

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

GenotypeQuality
all individuals: 3131
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.534073e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 3123
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37620
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42600679281902e-4
allele num: 16488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 89
allele frequency: 1.028426161312688e-2
allele num: 8654
num of homozygotes: 1

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

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

FS
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.96e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.661e0

DP
type: SiteQuality
SIO_000300: 2.540552e6

GenotypeQuality
all individuals: 3123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.537643e6

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
all individuals: 3123
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele count: 0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499205421126803e-5
allele num: 66702
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Other
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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QD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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South Asian
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East Asian
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num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.98e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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Latino
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allele num: 11576
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 5.962e1

FS
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QD
type: SiteQuality
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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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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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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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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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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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Other
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East Asian
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African
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European (Finnish)
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Latino
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allele num: 11576
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South Asian
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FS
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10404
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East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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DP
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FS
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InbreedingCoeff
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SIO_000300: 2.0e-4

ClippingRankSum
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.638562543192812e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.957e1

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.405e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10404
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 4.38e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

Other
type: Population
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Latino
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

East Asian
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MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

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

MQ
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SIO_000300: 6.0e1

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

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

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

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

East Asian
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allele frequency: 1.155802126675913e-4
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num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

East Asian
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allele num: 8652
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South Asian
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allele num: 16498
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Latino
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Other
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European (Finnish)
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African
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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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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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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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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Other
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African
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South Asian
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QD
type: SiteQuality
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FS
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.5338e6

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 8.44e0

GenotypeQuality
all individuals: 1687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37617
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 2.533508e6

FS
type: SiteQuality
SIO_000300: 1.654e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 2.531196e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.929e0

FS
type: SiteQuality
SIO_000300: 5.95e0

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 8031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 37617
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 2.531623e6

FS
type: SiteQuality
SIO_000300: 2.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 867
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1339
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variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 2.509509e6

GenotypeQuality
all individuals: 866
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 315
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GenotypeQuality
all individuals: 1681
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variant carriers: 0

GenotypeQuality
all individuals: 2759
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variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 2.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.503552e6

GenotypeQuality
all individuals: 866
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 2.371e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.235e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.503552e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 545
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GenotypeQuality
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 37629
bin: 9.75e1
variant carriers: 34

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

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

African
type: Population
allele count: 34
allele frequency: 3.281853281853282e-3
allele num: 10360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
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: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 2.498893e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.751e0

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 1870
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1486
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GenotypeQuality
all individuals: 1720
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545308443565336e-5
allele num: 64712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.418e1

VQSLOD
type: SiteQuality
SIO_000300: -7.786e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.776e0

DP
type: SiteQuality
SIO_000300: 1.57965e6

GenotypeQuality
all individuals: 1854
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25917
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GenotypeQuality
all individuals: 1921
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.581777918380259e-4
allele num: 12644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 9.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.580656e6

GenotypeQuality
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544496957340994e-5
allele num: 64746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 7.148e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

DP
type: SiteQuality
SIO_000300: 1.594324e6

GenotypeQuality
all individuals: 10096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.5e0
variant carriers: 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: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.90263948158685e-5
allele num: 12654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 7.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.594324e6

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12712
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.17283950617284e-5
allele num: 64800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.529e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 5.356e0

DP
type: SiteQuality
SIO_000300: 1.604063e6

GenotypeQuality
all individuals: 1468
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-5
allele num: 64800
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.117707267144319e-4
allele num: 9770
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: 11446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.499e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 2.096e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.605839e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

GenotypeQuality
all individuals: 2693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12676
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: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64812
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.609253e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 3.038e0

QD
type: SiteQuality
SIO_000300: 1.537e1

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.625774817281895e-5
allele num: 64854
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12794
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.747e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 1.615411e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10329
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.160101025656821e-5
allele num: 64934
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 1.6233e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.822e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 1445
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533648242439114e-5
allele num: 65204
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 2.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.643e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.642179e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
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: 9850
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.388798581350672e-5
allele num: 13534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 1.647779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeQuality
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 16
allele frequency: 1.146953405017921e-3
allele num: 13950
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.274e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.658044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.717e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1792
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variant carriers: 0

GenotypeQuality
all individuals: 10697
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.417e0

QD
type: SiteQuality
SIO_000300: 1.424e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

VQSLOD
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.669013e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1446
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GenotypeQuality
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variant carriers: 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: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
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: 1.585e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

DP
type: SiteQuality
SIO_000300: 1.68084e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
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: 2
allele frequency: 1.243935812912054e-4
allele num: 16078
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.697689e6

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

DP
type: SiteQuality
SIO_000300: 1.702974e6

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
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East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 1.70979e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 9.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

FS
type: SiteQuality
SIO_000300: 5.055e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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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
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.939e1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.894e0

FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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allele num: 908
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
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African
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allele num: 10350
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East 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: 6614
num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
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Other
type: Population
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South Asian
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allele frequency: 6.056201550387597e-5
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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SIO_000300: -1.99e-1

ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.231e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.715317e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.999e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.715182e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10398
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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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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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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African
type: Population
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allele frequency: 9.611687812379854e-5
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 4.805843906189927e-4
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.715648e6

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

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
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GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 7.525e0

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: -6.145e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.714949e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

GenotypeQuality
all individuals: 3417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11013
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 9.75e1
variant carriers: 368

GenotypeQuality
all individuals: 37656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 19
allele frequency: 1.641043358092935e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 339
allele frequency: 3.25836216839677e-2
allele num: 10404
num of homozygotes: 4

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648384583108554e-4
allele num: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 1.741677e6

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.153e0

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

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.71534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.277e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.278e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 1.987e0

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 11070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 3420
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e0

DP
type: SiteQuality
SIO_000300: 1.714674e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 6.905e0

QD
type: SiteQuality
SIO_000300: 1.046e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

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

GenotypeQuality
all individuals: 37873
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11071
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.244e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

DP
type: SiteQuality
SIO_000300: 1.714592e6

MQ
type: SiteQuality
SIO_000300: 5.858e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.394e0