2-27560252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560252
    reference: chr 2
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.413-43G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.104+59C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.684-52C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+59C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1029-43G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.105-26C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1029-43G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+59C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+59C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.475-52C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+59C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+59C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.643-52C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-27560258-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560258
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560257
    reference: chr 2
allele count: 9
allele frequency: 7.494254404956201e-5
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1029-50delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.684-45delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.413-50delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.104+66delC
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.475-45delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.105-19delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1029-50delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+66delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.643-45delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+66delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+66delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+66delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+66delC
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: TC
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-27560297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560297
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.643-7T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-53T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+51A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.684-7T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+104T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.475-7T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+51A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.124T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+51A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+104T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.475-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-27560299-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560299
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+49A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+106T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.475-5T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-51T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+106T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+49A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.643-5T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.684-5T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+49A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+106T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+106T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.126T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+106T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.475-5T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-27560303-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560303
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.130G>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.643-1G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+110G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-47G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+110G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+45C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+110G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+45C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+45C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.684-1G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+110G>C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.475-1G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+110G>C
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.475-1G>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-27560307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560307
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.646T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.134T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+114T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585326
  gene symbol: AC109828.1
  hgvsc: ENST00000585326.1:n.687T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.478T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+114T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+114T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-43T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+114T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+114T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-27560323-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560323
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+130C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.494C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+130C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+25G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+25G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+25G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+130C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000592265
  gene symbol: AC109828.1
  hgvsc: ENST00000592265.1:n.662C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.150C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+130C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+130C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-27C>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-27560328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560328
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+20C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+135G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+20C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.499G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+135G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.155G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+135G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+135G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-22G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+20C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+135G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-27560332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560332
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+139T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.159T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+16A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+139T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.503T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-18T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+139T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+139T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+16A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+16A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+139T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9394
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-27560335-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560335
    reference: chr 2
allele count: 8
allele frequency: 6.591197455797781e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+142T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+142T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-15T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+142T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+142T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.162T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.506T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+13A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+13A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+13A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+142T>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-27560347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560347
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.412+1G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1028+1G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+154C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+154C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+154C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+154C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.174C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.105-3C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.518C>A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1028+1G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+154C>A
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1028+1G>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-27560354-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560354
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560354
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+161G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1022C>G
  hgvsp: ENSP00000352536.2:p.Ser341Cys
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1022C>G
  hgvsp: ENSP00000264720.3:p.Ser341Cys
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+161G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.525G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+161G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.406C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+161G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.109G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+161G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.181G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser341Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-27560359-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560359
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+166C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.114C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1017G>C
  hgvsp: ENSP00000352536.2:p.Leu339Phe
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.401G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.186C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1017G>C
  hgvsp: ENSP00000264720.3:p.Leu339Phe
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+166C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+166C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.530C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+166C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+166C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu339Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27560373-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560373
    reference: chr 2
allele count: 3
allele frequency: 2.474022761009401e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.544A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+180A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+180A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.1003T>C
  hgvsp: ENSP00000352536.2:p.Trp335Arg
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.128A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+180A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+180A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.387T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.1003T>C
  hgvsp: ENSP00000264720.3:p.Trp335Arg
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.200A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+180A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp335Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-27560422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560422
    reference: chr 2
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.954A>G
  hgvsp: ENST00000264720.3:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.338A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.249T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+229T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+229T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.177T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.954A>G
  hgvsp: ENST00000359541.2:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+229T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.593T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+229T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+229T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg318Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-27560427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560427
    reference: chr 2
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-2A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+234T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-2A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.182T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+234T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.598T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-2A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+234T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.254T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+234T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+234T>C
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: c.951-2A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

2-27560435-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560435
    reference: chr 2
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.606C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.262C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-10G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+242C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+242C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+242C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.190C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-10G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+242C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-10G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+242C>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27560440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560440
    reference: chr 2
allele count: 10
allele frequency: 8.334583520861463e-5
allele num: 119982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+247G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.195G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+247G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+247G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.267G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.611G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-15C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-15C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-15C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+247G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+247G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27560441-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560441
    reference: chr 2
allele count: 47
allele frequency: 3.918037979959652e-4
allele num: 119958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+248A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-16T>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+248A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-16T>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-16T>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.268A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.196A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.612A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+248A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+248A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+248A>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22082
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16144
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8827
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-27560443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560443
    reference: chr 2
allele count: 2
allele frequency: 1.668223675430402e-5
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+250G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+250G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-18C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+250G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-18C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.198G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.614G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.270G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+250G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+250G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-18C>T
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-27560444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560444
    reference: chr 2
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+251C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-19G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.271C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-19G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+251C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.615C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.199C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+251C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+251C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+251C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-19G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-27560454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560454
    reference: chr 2
allele count: 1
allele frequency: 8.365680631776201e-6
allele num: 119536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.209G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-29C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+261G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.281G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-29C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-29C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+261G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.625G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+261G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+261G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+261G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-27560458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560458
    reference: chr 2
allele count: 2
allele frequency: 1.675182176061647e-5
allele num: 119390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+265A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-33T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-33T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+265A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+265A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.285A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+265A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-33T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+265A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.629A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.213A>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24973
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-27560459-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560459
    reference: chr 2
allele count: 2
allele frequency: 1.676389727083752e-5
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+266G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.214G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-34C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.630G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.286G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+266G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+266G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+266G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+266G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-34C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-34C>G
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-27560461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560461
    reference: chr 2
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+268G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-36C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+268G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-36C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.632G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+268G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-36C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+268G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.288G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.216G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+268G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-27560464-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560464
    reference: chr 2
allele count: 2
allele frequency: 1.682085786375105e-5
allele num: 118900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.291T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.635T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+271T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-39A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+271T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-39A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.219T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+271T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+271T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+271T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-39A>C
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-27560466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560466
    reference: chr 2
allele count: 15
allele frequency: 1.263200444646556e-4
allele num: 118746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+273T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+273T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+273T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+273T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.221T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.637T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+273T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-41A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.293T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

2-27560470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560470
    reference: chr 2
allele count: 1
allele frequency: 8.459807454782329e-6
allele num: 118206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-45C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.297G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+277G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+277G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+277G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.225G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-45C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-45C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+277G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.641G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+277G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-27560472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560472
    reference: chr 2
allele count: 6
allele frequency: 5.099352382247454e-5
allele num: 117662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+279C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590754
  gene symbol: AC109828.1
  hgvsc: ENST00000590754.1:n.299C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+279C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000416453
  gene symbol: AC109828.1
  hgvsc: ENST00000416453.2:n.643C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+279C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.951-47G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+279C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000585645
  gene symbol: AC109828.1
  hgvsc: ENST00000585645.1:n.227C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.951-47G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+279C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.335-47G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-27560743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560743
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+550C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+50G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+550C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+50G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+550C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+550C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+550C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+50G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27560755-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560755
    reference: chr 2
allele count: 19
allele frequency: 1.565718994643593e-4
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+38G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+562C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+38G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+562C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+38G>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+562C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+562C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+562C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50453
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

2-27560758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560758
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+565T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+565T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+35A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+35A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+565T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+565T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+35A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+565T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-27560761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560761
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+568A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+32T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+568A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+32T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+568A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+568A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+32T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+568A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-27560763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560763
    reference: chr 2
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+570T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+30A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+570T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+30A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+570T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+570T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+570T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+30A>G
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

2-27560764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560764
    reference: chr 2
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+29T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+571A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+29T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+29T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+571A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+571A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+571A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+571A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-27560769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560769
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560769
    reference: chr 2
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+24G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+24G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+24G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+576C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-27560772-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560772
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+579C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+579C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+21G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+21G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+579C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+579C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+21G>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+579C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-27560774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560774
    reference: chr 2
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+581C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+19G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+581C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+581C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+19G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+581C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+581C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+19G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

2-27560775-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560773
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+583_104+584delCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+16_334+17delAG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+583_104+584delCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+583_104+584delCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+16_950+17delAG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+16_950+17delAG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+583_116+584delCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+583_104+584delCT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50455
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: CCT
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

2-27560779-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560778
    reference: chr 2
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+590delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+13delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+13delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+13delG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+590delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+590delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+590delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+590delC
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-27560783-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560781
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+8_950+9delTT
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+591_104+592delAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+591_104+592delAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+591_116+592delAA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+8_950+9delTT
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+591_104+592delAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+8_334+9delTT
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+591_104+592delAA
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: c.950+8_950+9delTT
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: CAA
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-27560789-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560789
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+4A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+596T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+596T>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+4A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+4A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+596T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+596T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+596T>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 6.25e1
  variant carriers: 0
hgvs: c.950+4A>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

2-27560790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560790
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+597C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+597C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.334+3G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+597C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+597C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+597C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.950+3G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.950+3G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
hgvs: c.950+3G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-27560795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560795
    reference: chr 2
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+602G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+602G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+602G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.332C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.948C>T
  hgvsp: ENST00000264720.3:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+602G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+602G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.948C>T
  hgvsp: ENST00000359541.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.948C>T
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-27560806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560806
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+613G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+613G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.937C>G
  hgvsp: ENSP00000264720.3:p.Leu313Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.937C>G
  hgvsp: ENSP00000352536.2:p.Leu313Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+613G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.321C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+613G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+613G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu313Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-27560808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560808
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.935A>G
  hgvsp: ENSP00000352536.2:p.His312Arg
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+615T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+615T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+615T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.319A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+615T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.935A>G
  hgvsp: ENSP00000264720.3:p.His312Arg
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+615T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His312Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27560812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560812
    reference: chr 2
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+619G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+619G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.931C>T
  hgvsp: ENSP00000352536.2:p.Leu311Phe
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.315C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+619G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+619G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.931C>T
  hgvsp: ENSP00000264720.3:p.Leu311Phe
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+619G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu311Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-27560825-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560825
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+632A>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.918T>A
  hgvsp: ENST00000264720.3:c.918T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.302T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.918T>A
  hgvsp: ENST00000359541.2:c.918T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+632A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+632A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+632A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+632A>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro306Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-27560833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560833
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.294A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+640T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.910A>G
  hgvsp: ENSP00000264720.3:p.Met304Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+640T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.910A>G
  hgvsp: ENSP00000352536.2:p.Met304Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+640T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+640T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+640T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met304Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

2-27560834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560834
    reference: chr 2
allele count: 17
allele frequency: 1.400214150399473e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.293C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+641G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+641G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.909C>T
  hgvsp: ENST00000264720.3:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+641G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+641G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.909C>T
  hgvsp: ENST00000359541.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+641G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile303Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-27560853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560853
    reference: chr 2
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+660T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.890A>G
  hgvsp: ENSP00000352536.2:p.Asn297Ser
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+660T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+660T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.274A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+660T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+660T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.890A>G
  hgvsp: ENSP00000264720.3:p.Asn297Ser
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn297Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-27560863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560863
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+670T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+670T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.880A>G
  hgvsp: ENSP00000352536.2:p.Met294Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+670T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.880A>G
  hgvsp: ENSP00000264720.3:p.Met294Val
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.264A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+670T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+670T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  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: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met294Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-27560868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560868
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+675C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+675C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+675C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.875G>A
  hgvsp: ENSP00000352536.2:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.875G>A
  hgvsp: ENSP00000264720.3:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+675C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+675C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.259G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg292Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-27560869-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560869
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.874C>G
  hgvsp: ENSP00000352536.2:p.Arg292Gly
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.874C>G
  hgvsp: ENSP00000264720.3:p.Arg292Gly
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+676G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+676G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+676G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+676G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.258C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+676G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg292Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-27560873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560873
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.870C>T
  hgvsp: ENST00000264720.3:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+680G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.254C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+680G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.870C>T
  hgvsp: ENST00000359541.2:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+680G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+680G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+680G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His290His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-27560873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560873
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.870C>G
  hgvsp: ENSP00000352536.2:p.His290Gln
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+680G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.254C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+680G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.870C>G
  hgvsp: ENSP00000264720.3:p.His290Gln
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+680G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+680G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+680G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His290Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-27560892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560892
    reference: chr 2
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+699G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+699G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.235C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-5C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+699G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-5C>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+699G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+699G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: c.856-5C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27560898-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560898
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+705A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.229T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+705A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+705A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+705A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+705A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-11T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-11T>A
  variant of: http://identifiers.org/hgnc/4665
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-27560911-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560911
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560911
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-24T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+718A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+718A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+718A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.216T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+718A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-24T>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+718A>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27560914-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560914
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+721A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+721A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-27T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.213T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+721A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+721A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+721A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-27T>C
  variant of: http://identifiers.org/hgnc/4665
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

2-27560933-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560933
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+740T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+740T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-46A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.194A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+740T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-46A>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+740T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+740T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-27560936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560936
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-49C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+743G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+743G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.191C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-49C>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+743G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+743G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+743G>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

2-27560939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27560939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27560939
    reference: chr 2
allele count: 5
allele frequency: 4.126229616425695e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.856-52T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.116+746A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115207
  ensembl transcript: ENST00000480989
  gene symbol: GTF3C2
  hgvsc: ENST00000480989.1:n.188T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000588707
  gene symbol: AC109828.1
  hgvsc: ENST00000588707.1:n.104+746A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.856-52T>C
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589232
  gene symbol: AC109828.1
  hgvsc: ENST00000589232.1:n.104+746A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000587586
  gene symbol: AC109828.1
  hgvsc: ENST00000587586.1:n.104+746A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000589853
  gene symbol: AC109828.1
  hgvsc: ENST00000589853.1:n.104+746A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-27564765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564765
    reference: chr 2
allele count: 1
allele frequency: 8.645881966419394e-6
allele num: 115662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-145C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+50G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+50G>A
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-27564774-CCTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564771
    reference: chr 2
allele count: 22
allele frequency: 1.896911483212333e-4
allele num: 115978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-132_117-130delCTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+38_855+40delTAG
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+38_855+40delTAG
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23263
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.75e1
  variant carriers: 22
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: CCTA
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-27564786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564786
    reference: chr 2
allele count: 1
allele frequency: 8.566631257924135e-6
allele num: 116732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+29G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+29G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-124C>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41607
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
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genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-27564791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564791
    reference: chr 2
allele count: 2
allele frequency: 1.708000273280044e-5
allele num: 117096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+24G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+24G>A
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-119C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27564799-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564799
    reference: chr 2
allele count: 2
allele frequency: 1.694829076487636e-5
allele num: 118006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+16A>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+16A>T
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-111T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-27564801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564801
    reference: chr 2
allele count: 5
allele frequency: 4.229545915950464e-5
allele num: 118216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-109T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+14A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+14A>G
  variant of: http://identifiers.org/hgnc/4665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25028
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-27564805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27564805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27564805
    reference: chr 2
allele count: 2
allele frequency: 1.68401199016537e-5
allele num: 118764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000264720
  ensembl transcript: ENST00000264720
  gene symbol: GTF3C2
  hgvsc: ENST00000264720.3:c.855+10A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115207
  ensembl protein: ENSP00000352536
  ensembl transcript: ENST00000359541
  gene symbol: GTF3C2
  hgvsc: ENST00000359541.2:c.855+10A>G
  variant of: http://identifiers.org/hgnc/4665
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000234945
  ensembl transcript: ENST00000590383
  gene symbol: AC109828.1
  hgvsc: ENST00000590383.1:n.117-105T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.44e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 1.413e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 1.543762e6

GenotypeDepth
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.062573789846517e-3
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 4.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 6.04e1

DP
type: SiteQuality
SIO_000300: 1.562696e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeDepth
all individuals: 34
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4141
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1777
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30231
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7245
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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: 11570
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.299e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

FS
type: SiteQuality
SIO_000300: 5.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

DP
type: SiteQuality
SIO_000300: 1.990511e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeDepth
all individuals: 384
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9386
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.990449e6

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.291e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.724e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

GenotypeDepth
all individuals: 3271
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7225
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 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: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.598e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 1.990525e6

FS
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SIO_000300: 6.054e0

ClippingRankSum
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SIO_000300: -1.099e0

QD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

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

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

African
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Other
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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MQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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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

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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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66722
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Other
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num of homozygotes: 0

DP
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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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
allele num: 10404
num of homozygotes: 0

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

FS
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BaseQRankSum
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QD
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MQ
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SIO_000300: 5.98e1

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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SIO_000300: -2.98e-1

DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8652
num of homozygotes: 0

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

Other
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allele count: 0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

African
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allele frequency: 6.728181468665898e-4
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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Other
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South Asian
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East Asian
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FS
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.989488e6

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

QD
type: SiteQuality
SIO_000300: 1.482e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.987969e6

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 2.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.967636e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
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bin: 2.25e1
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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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: 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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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 1.962596e6

GenotypeQuality
all individuals: 1722
bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7145
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.545e1

VQSLOD
type: SiteQuality
SIO_000300: -1.957e0

DP
type: SiteQuality
SIO_000300: 1.952369e6

FS
type: SiteQuality
SIO_000300: 1.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.517404631118934e-4
allele num: 65902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.264e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

DP
type: SiteQuality
SIO_000300: 1.944062e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.037e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.990430622009569e-4
allele num: 10032
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.092896174863388e-3
allele num: 16470
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.945970556988921e-4
allele num: 65890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

DP
type: SiteQuality
SIO_000300: 1.942502e6

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037298019681691e-5
allele num: 65848
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.936374e6

GenotypeQuality
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bin: 4.25e1
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3830
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.933418e6

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.885e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e0

FS
type: SiteQuality
SIO_000300: 2.944e0

MQRankSum
type: SiteQuality
SIO_000300: -1.698e0

VQSLOD
type: SiteQuality
SIO_000300: -3.415e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8248
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.893738e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.746419839329375e-4
allele num: 11452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.692e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.078e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.869255e6

GenotypeQuality
all individuals: 1407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7994
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variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 265
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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
all individuals: 1841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7097
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745810055865922e-4
allele num: 11456
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.86288e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.746e1

VQSLOD
type: SiteQuality
SIO_000300: -3.811e-1

GenotypeQuality
all individuals: 1474
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
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variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7576
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variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.015640869388584e-4
allele num: 9846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.677e0

DP
type: SiteQuality
SIO_000300: 1.842016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 3020
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variant carriers: 0

GenotypeQuality
all individuals: 3501
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variant carriers: 0

GenotypeQuality
all individuals: 1121
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 12
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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: 2

GenotypeQuality
all individuals: 7056
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variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061755610667156e-5
allele num: 65322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.8037e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25
bin: 2.5e0
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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2523
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.542257865515114e-3
allele num: 9726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.581e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.785407e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1544
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.375e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

QD
type: SiteQuality
SIO_000300: 7.63e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.744499e6

GenotypeQuality
all individuals: 1673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7090
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 1985
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64622
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.764913519237557e-4
allele num: 11332
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.441108263151471e-4
allele num: 16386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

DP
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SIO_000300: 1.729604e6

QD
type: SiteQuality
SIO_000300: 9.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

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

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 4.366884e6

QD
type: SiteQuality
SIO_000300: 1.836e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.327e0

VQSLOD
type: SiteQuality
SIO_000300: -5.873e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.576e0

GenotypeQuality
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bin: 2.25e1
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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419842710223836e-3
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.94e0

DP
type: SiteQuality
SIO_000300: 4.369714e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
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bin: 9.25e1
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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.468e0

DP
type: SiteQuality
SIO_000300: 4.366852e6

GenotypeQuality
all individuals: 1237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 762
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GenotypeQuality
all individuals: 1214
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.607e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 4.367284e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.625e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.300000000000001e0

GenotypeQuality
all individuals: 1623
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1213
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.581e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.367326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50453
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variant carriers: 4

GenotypeQuality
all individuals: 761
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.422e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.85e0

DP
type: SiteQuality
SIO_000300: 4.367517e6

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 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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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 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: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
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: 6612
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

DP
type: SiteQuality
SIO_000300: 4.367527e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

GenotypeQuality
all individuals: 878
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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
all individuals: 1264
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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

South Asian
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

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

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.459e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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
all individuals: 7
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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: 6612
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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East Asian
type: Population
allele count: 0
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allele num: 8652
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MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
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SIO_000300: 1.58e0

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.367348e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

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

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

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: -7.89e-1

DP
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FS
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
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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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Other
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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South Asian
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allele count: 0
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.494e0

QD
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DP
type: SiteQuality
SIO_000300: 4.366919e6

ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

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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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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FS
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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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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66738
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African
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European (Finnish)
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East Asian
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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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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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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QD
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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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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African
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European (Finnish)
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

East Asian
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South Asian
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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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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South Asian
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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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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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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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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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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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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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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South Asian
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -5.25e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1213
bin: 7.75e1
variant carriers: 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: 8642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
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: -6.81e0

MQRankSum
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 4.360991e6

FS
type: SiteQuality
SIO_000300: 3.086e0

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 4.358993e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.625e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 10388
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: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -8.166e-1

DP
type: SiteQuality
SIO_000300: 4.358511e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

QD
type: SiteQuality
SIO_000300: 1.794e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 1234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2102
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GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 4.347796e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.543e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.566e-1

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 276
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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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 757
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variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.016e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

DP
type: SiteQuality
SIO_000300: 4.346731e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.24e-2

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1233
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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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: 1252
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.462e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.345803e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
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DP
type: SiteQuality
SIO_000300: 1.479865e6

QD
type: SiteQuality
SIO_000300: 2.342e1

FS
type: SiteQuality
SIO_000300: 1.374e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.674597083653108e-5
allele num: 13030
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 20
allele frequency: 1.940617116242965e-3
allele num: 10306
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VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.500642e6

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

QD
type: SiteQuality
SIO_000300: 1.795e1

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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South Asian
type: Population
allele count: 1
allele frequency: 7.409602845287492e-5
allele num: 13496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 846
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.34e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 1.908e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.654e0

MQ
type: SiteQuality
SIO_000300: 5.834e1

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: 6566
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 1.935359009096187e-4
allele num: 10334
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.02e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-5
allele num: 65720
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DP
type: SiteQuality
SIO_000300: 1.55603e6

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.562043795620438e-5
allele num: 65760
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.145e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.560114e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1