7-73969768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969768
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969768
    reference: chr 7
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2012A>G
  hgvsp: ENSP00000265755.3:p.Glu671Gly
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1967A>G
  hgvsp: ENSP00000408477.2:p.Glu656Gly
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1967A>G
  hgvsp: ENSP00000418383.1:p.Glu656Gly
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.99A>G
  hgvsp: ENSP00000417909.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2063A>G
  hgvsp: ENSP00000397566.2:p.Glu688Gly
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+215A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu688Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73969775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969775
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969775
    reference: chr 7
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2019T>C
  hgvsp: ENST00000265755.3:c.2019T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+222T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.106T>C
  hgvsp: ENST00000470715.1:c.106T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1974T>C
  hgvsp: ENST00000476977.1:c.1974T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2070T>C
  hgvsp: ENST00000455841.2:c.2070T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1974T>C
  hgvsp: ENST00000424337.2:c.1974T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45918
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp690Asp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73969779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969779
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969779
    reference: chr 7
allele count: 2
allele frequency: 1.655026314918407e-5
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2074G>A
  hgvsp: ENSP00000397566.2:p.Gly692Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1978G>A
  hgvsp: ENSP00000418383.1:p.Gly660Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+226G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1978G>A
  hgvsp: ENSP00000408477.2:p.Gly660Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2023G>A
  hgvsp: ENSP00000265755.3:p.Gly675Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.110G>A
  hgvsp: ENSP00000417909.1:p.Gly38Arg
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly692Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-73969786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969786
    reference: chr 7
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1985C>T
  hgvsp: ENSP00000408477.2:p.Pro662Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.117C>T
  hgvsp: ENSP00000417909.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1985C>T
  hgvsp: ENSP00000418383.1:p.Pro662Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2030C>T
  hgvsp: ENSP00000265755.3:p.Pro677Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2081C>T
  hgvsp: ENSP00000397566.2:p.Pro694Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+233C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro694Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-73969789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969789
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969789
    reference: chr 7
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2033T>C
  hgvsp: ENSP00000265755.3:p.Leu678Pro
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1988T>C
  hgvsp: ENSP00000408477.2:p.Leu663Pro
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+236T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1988T>C
  hgvsp: ENSP00000418383.1:p.Leu663Pro
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.120T>C
  hgvsp: ENSP00000417909.1:p.Leu41Pro
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2084T>C
  hgvsp: ENSP00000397566.2:p.Leu695Pro
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu695Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-73969790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969790
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969790
    reference: chr 7
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1989G>C
  hgvsp: ENST00000476977.1:c.1989G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2034G>C
  hgvsp: ENST00000265755.3:c.2034G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2085G>C
  hgvsp: ENST00000455841.2:c.2085G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1989G>C
  hgvsp: ENST00000424337.2:c.1989G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+237G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.121G>C
  hgvsp: ENST00000470715.1:c.121G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu695Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-73969791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969791
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969791
    reference: chr 7
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2086G>A
  hgvsp: ENSP00000397566.2:p.Val696Met
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1990G>A
  hgvsp: ENSP00000418383.1:p.Val664Met
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2035G>A
  hgvsp: ENSP00000265755.3:p.Val679Met
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+238G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1990G>A
  hgvsp: ENSP00000408477.2:p.Val664Met
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.122G>A
  hgvsp: ENSP00000417909.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val696Met
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-73969796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969796
    reference: chr 7
allele count: 121
allele frequency: 1.003749543750207e-3
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1995C>T
  hgvsp: ENST00000424337.2:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2040C>T
  hgvsp: ENST00000265755.3:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+243C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2091C>T
  hgvsp: ENST00000455841.2:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1995C>T
  hgvsp: ENST00000476977.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.127C>T
  hgvsp: ENST00000470715.1:c.127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 18695
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28112
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp697Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

7-73969797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969797
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969797
    reference: chr 7
allele count: 93
allele frequency: 7.716689623126836e-4
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.128G>A
  hgvsp: ENSP00000417909.1:p.Glu44Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.1996G>A
  hgvsp: ENSP00000418383.1:p.Glu666Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.1996G>A
  hgvsp: ENSP00000408477.2:p.Glu666Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2092G>A
  hgvsp: ENSP00000397566.2:p.Glu698Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+244G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2041G>A
  hgvsp: ENSP00000265755.3:p.Glu681Lys
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28129
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu698Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

7-73969803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969803
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969803
    reference: chr 7
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2002C>T
  hgvsp: ENST00000424337.2:c.2002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.134C>T
  hgvsp: ENST00000470715.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2002C>T
  hgvsp: ENST00000476977.1:c.2002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2047C>T
  hgvsp: ENST00000265755.3:c.2047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+250C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2098C>T
  hgvsp: ENST00000455841.2:c.2098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu700Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-73969805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969805
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969805
    reference: chr 7
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.136G>A
  hgvsp: ENST00000470715.1:c.136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+252G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2049G>A
  hgvsp: ENST00000265755.3:c.2049G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2004G>A
  hgvsp: ENST00000424337.2:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2100G>A
  hgvsp: ENST00000455841.2:c.2100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2004G>A
  hgvsp: ENST00000476977.1:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu700Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

7-73969811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969811
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969811
    reference: chr 7
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2010A>G
  hgvsp: ENST00000476977.1:c.2010A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2055A>G
  hgvsp: ENST00000265755.3:c.2055A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2010A>G
  hgvsp: ENST00000424337.2:c.2010A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+258A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.142A>G
  hgvsp: ENST00000470715.1:c.142A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2106A>G
  hgvsp: ENST00000455841.2:c.2106A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg702Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-73969820-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969820
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969820
    reference: chr 7
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.151T>G
  hgvsp: ENSP00000417909.1:p.Phe51Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2019T>G
  hgvsp: ENSP00000418383.1:p.Phe673Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2064T>G
  hgvsp: ENSP00000265755.3:p.Phe688Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2115T>G
  hgvsp: ENSP00000397566.2:p.Phe705Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2019T>G
  hgvsp: ENSP00000408477.2:p.Phe673Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+267T>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe705Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-73969824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969824
    reference: chr 7
allele count: 1
allele frequency: 8.437394532568342e-6
allele num: 118520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155G>A
  hgvsp: ENSP00000417909.1:p.Glu53Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023G>A
  hgvsp: ENSP00000408477.2:p.Glu675Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023G>A
  hgvsp: ENSP00000418383.1:p.Glu675Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+271G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119G>A
  hgvsp: ENSP00000397566.2:p.Glu707Lys
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068G>A
  hgvsp: ENSP00000265755.3:p.Glu690Lys
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu707Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-73969825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969825
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969825
    reference: chr 7
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+1G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+272G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+1G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+1G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+1G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+1G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2119+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

7-73969827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969827
    reference: chr 7
allele count: 1
allele frequency: 8.4774499830451e-6
allele num: 117960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+3A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+3A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+3A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+3A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+3A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+274A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26126
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2119+3A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

7-73969841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969841
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969841
    reference: chr 7
allele count: 11
allele frequency: 9.633236417136652e-5
allele num: 114188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+17G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+17G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+17G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+288G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+17G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+17G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18913
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-73969843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969843
    reference: chr 7
allele count: 1
allele frequency: 8.768699251153084e-6
allele num: 114042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+290G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+19G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+19G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+19G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+19G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+19G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

7-73969843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969843
    reference: chr 7
allele count: 1
allele frequency: 8.768699251153084e-6
allele num: 114042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+19G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+19G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+290G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+19G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+19G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+19G>C
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-73969844-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969844
    reference: chr 7
allele count: 1
allele frequency: 8.796312585764048e-6
allele num: 113684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+291G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+20G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+20G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+20G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+20G>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+20G>C
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

7-73969847-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969847
    reference: chr 7
allele count: 6
allele frequency: 5.290632054176072e-5
allele num: 113408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+23G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+23G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+23G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+23G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+294G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+23G>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15604
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-73969856-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969856
    reference: chr 7
allele count: 4
allele frequency: 3.579802752868317e-5
allele num: 111738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+32C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+303C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+32C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+32C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+32C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+32C>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-73969862-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73969862
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73969862
    reference: chr 7
allele count: 1
allele frequency: 9.052559158474101e-6
allele num: 110466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2023+38A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2023+38A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.155+38A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2068+38A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1972+309A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2119+38A>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-73971929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971929
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971929
    reference: chr 7
allele count: 1
allele frequency: 9.049282391906321e-6
allele num: 110506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-40A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-40A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-40A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-40A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-40A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-40A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

7-73971934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971934
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971934
    reference: chr 7
allele count: 2
allele frequency: 1.799985600115199e-5
allele num: 111112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-35A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25567
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-73971952-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971952
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971952
    reference: chr 7
allele count: 1
allele frequency: 8.633640115345432e-6
allele num: 115826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-17C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-17C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-17C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-17C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-17C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-17C>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
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: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

7-73971952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971952
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971952
    reference: chr 7
allele count: 6
allele frequency: 5.180184069207259e-5
allele num: 115826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-17C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-73971953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971953
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971953
    reference: chr 7
allele count: 6
allele frequency: 5.157297576070139e-5
allele num: 116340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-16G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-16G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-16G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-16G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-16G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-16G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38652
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-73971955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971955
    reference: chr 7
allele count: 1
allele frequency: 8.548615979072987e-6
allele num: 116978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-14T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-14T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-14T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-14T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-14T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-14T>C
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39339
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

7-73971959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971959
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971959
    reference: chr 7
allele count: 3786
allele frequency: 3.208637727342068e-2
allele num: 117994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-10C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-10C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-10C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-10C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-10C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-10C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 37557
  bin: 2.25e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.75e1
  variant carriers: 556
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 601
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 9.75e1
  variant carriers: 3595
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42955
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 103
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-73971960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971960
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971960
    reference: chr 7
allele count: 4
allele frequency: 3.372567535664902e-5
allele num: 118604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-9G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-9G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-9G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-9G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-9G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-9G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-73971966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971966
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971966
    reference: chr 7
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2024-3C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2024-3C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1973-3C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2120-3C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.156-3C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2069-3C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2120-3C>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

7-73971979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971979
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971979
    reference: chr 7
allele count: 2
allele frequency: 1.663008048958957e-5
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2079C>T
  hgvsp: ENST00000265755.3:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2130C>T
  hgvsp: ENST00000455841.2:c.2130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2034C>T
  hgvsp: ENST00000424337.2:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2034C>T
  hgvsp: ENST00000476977.1:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1983C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.166C>T
  hgvsp: ENST00000470715.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp710Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-73971980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971980
    reference: chr 7
allele count: 16
allele frequency: 1.329146521789696e-4
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.167G>A
  hgvsp: ENSP00000417909.1:p.Ala57Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2035G>A
  hgvsp: ENSP00000418383.1:p.Ala679Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1984G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2080G>A
  hgvsp: ENSP00000265755.3:p.Ala694Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2131G>A
  hgvsp: ENSP00000397566.2:p.Ala711Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2035G>A
  hgvsp: ENSP00000408477.2:p.Ala679Thr
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala711Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

7-73971981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971981
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971981
    reference: chr 7
allele count: 2
allele frequency: 1.660550306371532e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2081C>T
  hgvsp: ENSP00000265755.3:p.Ala694Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2036C>T
  hgvsp: ENSP00000418383.1:p.Ala679Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.168C>T
  hgvsp: ENSP00000417909.1:p.Ala57Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2036C>T
  hgvsp: ENSP00000408477.2:p.Ala679Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2132C>T
  hgvsp: ENSP00000397566.2:p.Ala711Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1985C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala711Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-73971982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971982
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971982
    reference: chr 7
allele count: 2
allele frequency: 1.659337924168257e-5
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2133G>A
  hgvsp: ENST00000455841.2:c.2133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.169G>A
  hgvsp: ENST00000470715.1:c.169G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1986G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2082G>A
  hgvsp: ENST00000265755.3:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2037G>A
  hgvsp: ENST00000476977.1:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2037G>A
  hgvsp: ENST00000424337.2:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala711Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-73971985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971985
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971985
    reference: chr 7
allele count: 2
allele frequency: 1.658209796703479e-5
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2040G>T
  hgvsp: ENSP00000418383.1:p.Arg680Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1989G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.172G>T
  hgvsp: ENSP00000417909.1:p.Arg58Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2136G>T
  hgvsp: ENSP00000397566.2:p.Arg712Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2085G>T
  hgvsp: ENSP00000265755.3:p.Arg695Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2040G>T
  hgvsp: ENSP00000408477.2:p.Arg680Ser
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg712Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

7-73971990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971990
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971990
    reference: chr 7
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.177C>T
  hgvsp: ENSP00000417909.1:p.Ser60Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2141C>T
  hgvsp: ENSP00000397566.2:p.Ser714Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2045C>T
  hgvsp: ENSP00000418383.1:p.Ser682Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2045C>T
  hgvsp: ENSP00000408477.2:p.Ser682Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2090C>T
  hgvsp: ENSP00000265755.3:p.Ser697Leu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1994C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser714Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-73971995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971995
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971995
    reference: chr 7
allele count: 162
allele frequency: 1.341570465574639e-3
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.182A>G
  hgvsp: ENSP00000417909.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2146A>G
  hgvsp: ENSP00000397566.2:p.Ile716Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2050A>G
  hgvsp: ENSP00000418383.1:p.Ile684Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.1999A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2050A>G
  hgvsp: ENSP00000408477.2:p.Ile684Val
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2095A>G
  hgvsp: ENSP00000265755.3:p.Ile699Val
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 15452
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile716Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-73971997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971997
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971997
    reference: chr 7
allele count: 4
allele frequency: 3.312684268062411e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2097C>T
  hgvsp: ENST00000265755.3:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.184C>T
  hgvsp: ENST00000470715.1:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2001C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2052C>T
  hgvsp: ENST00000424337.2:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2148C>T
  hgvsp: ENST00000455841.2:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2052C>T
  hgvsp: ENST00000476977.1:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile716Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-73971998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73971998
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73971998
    reference: chr 7
allele count: 3
allele frequency: 2.484513201046808e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2053G>A
  hgvsp: ENSP00000418383.1:p.Asp685Asn
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2053G>A
  hgvsp: ENSP00000408477.2:p.Asp685Asn
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.185G>A
  hgvsp: ENSP00000417909.1:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2149G>A
  hgvsp: ENSP00000397566.2:p.Asp717Asn
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2002G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2098G>A
  hgvsp: ENSP00000265755.3:p.Asp700Asn
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp717Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-73972003-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972003
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972003
    reference: chr 7
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2154C>A
  hgvsp: ENST00000455841.2:c.2154C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2058C>A
  hgvsp: ENST00000476977.1:c.2058C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.190C>A
  hgvsp: ENST00000470715.1:c.190C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2058C>A
  hgvsp: ENST00000424337.2:c.2058C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2103C>A
  hgvsp: ENST00000265755.3:c.2103C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2007C>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile718Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73972003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972003
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972003
    reference: chr 7
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2154C>T
  hgvsp: ENST00000455841.2:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2058C>T
  hgvsp: ENST00000424337.2:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2103C>T
  hgvsp: ENST00000265755.3:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2058C>T
  hgvsp: ENST00000476977.1:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.190C>T
  hgvsp: ENST00000470715.1:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2007C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile718Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-73972004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972004
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972004
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2059G>T
  hgvsp: ENSP00000418383.1:p.Ala687Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2155G>T
  hgvsp: ENSP00000397566.2:p.Ala719Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.191G>T
  hgvsp: ENSP00000417909.1:p.Ala65Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2104G>T
  hgvsp: ENSP00000265755.3:p.Ala702Ser
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2008G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2059G>T
  hgvsp: ENSP00000408477.2:p.Ala687Ser
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala719Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

7-73972033-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972033
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972033
    reference: chr 7
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2037C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2133C>G
  hgvsp: ENSP00000265755.3:p.Asp711Glu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2184C>G
  hgvsp: ENSP00000397566.2:p.Asp728Glu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2088C>G
  hgvsp: ENSP00000418383.1:p.Asp696Glu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2088C>G
  hgvsp: ENSP00000408477.2:p.Asp696Glu
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.220C>G
  hgvsp: ENSP00000417909.1:p.Asp74Glu
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp728Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

7-73972044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972044
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972044
    reference: chr 7
allele count: 1
allele frequency: 8.37436773523599e-6
allele num: 119412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.231A>G
  hgvsp: ENSP00000417909.1:p.Lys78Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2144A>G
  hgvsp: ENSP00000265755.3:p.Lys715Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2195A>G
  hgvsp: ENSP00000397566.2:p.Lys732Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2099A>G
  hgvsp: ENSP00000408477.2:p.Lys700Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2099A>G
  hgvsp: ENSP00000418383.1:p.Lys700Arg
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2048A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys732Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-73972047-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972047
    reference: chr 7
allele count: 1
allele frequency: 8.399690891375198e-6
allele num: 119052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2102A>C
  hgvsp: ENSP00000418383.1:p.Lys701Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.234A>C
  hgvsp: ENSP00000417909.1:p.Lys79Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2051A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2198A>C
  hgvsp: ENSP00000397566.2:p.Lys733Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2102A>C
  hgvsp: ENSP00000408477.2:p.Lys701Thr
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2147A>C
  hgvsp: ENSP00000265755.3:p.Lys716Thr
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys733Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

7-73972051-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972051
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972051
    reference: chr 7
allele count: 1
allele frequency: 8.433267553846413e-6
allele num: 118578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2106C>G
  hgvsp: ENSP00000418383.1:p.Tyr702Ter
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2106C>G
  hgvsp: ENSP00000408477.2:p.Tyr702Ter
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2151C>G
  hgvsp: ENSP00000265755.3:p.Tyr717Ter
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2055C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.238C>G
  hgvsp: ENSP00000417909.1:p.Tyr80Ter
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2202C>G
  hgvsp: ENSP00000397566.2:p.Tyr734Ter
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr734Ter
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-73972051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972051
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972051
    reference: chr 7
allele count: 7
allele frequency: 5.903287287692489e-5
allele num: 118578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2151C>T
  hgvsp: ENST00000265755.3:c.2151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2055C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2106C>T
  hgvsp: ENST00000424337.2:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.238C>T
  hgvsp: ENST00000470715.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2202C>T
  hgvsp: ENST00000455841.2:c.2202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2106C>T
  hgvsp: ENST00000476977.1:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2202C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

7-73972061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972061
    reference: chr 7
allele count: 10
allele frequency: 8.539563799081143e-5
allele num: 117102
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+9T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+9T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+9T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+9T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+9T>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+9T>C
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30865
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

7-73972069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972069
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972069
    reference: chr 7
allele count: 1
allele frequency: 8.652465087303372e-6
allele num: 115574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+17C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+17C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

7-73972072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972072
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972072
    reference: chr 7
allele count: 14
allele frequency: 1.219512195121951e-4
allele num: 114800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+20C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+20C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+20C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+20C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+20C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+20C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23193
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
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genotype quality: GenotypeQuality
  all individuals: 7780
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genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73972073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972073
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972073
    reference: chr 7
allele count: 6
allele frequency: 5.231858530545334e-5
allele num: 114682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+21G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+21G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+21G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+21G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+21G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+21G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

7-73972084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972084
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972084
    reference: chr 7
allele count: 7
allele frequency: 6.206334007163882e-5
allele num: 112788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+32C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+32C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+32C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+32C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+32C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+32C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

7-73972085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972085
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972085
    reference: chr 7
allele count: 5
allele frequency: 4.446657891928427e-5
allele num: 112444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+33G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+33G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+33G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+33G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+33G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+33G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

7-73972086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972086
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972086
    reference: chr 7
allele count: 3
allele frequency: 2.668564312399929e-5
allele num: 112420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+34C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+34C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+34C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+34C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+34C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+34C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-73972087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972087
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972087
    reference: chr 7
allele count: 2
allele frequency: 1.780087936344055e-5
allele num: 112354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+35A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+35A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

7-73972096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972096
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972096
    reference: chr 7
allele count: 1
allele frequency: 9.058299213739628e-6
allele num: 110396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+44G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+44G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+44G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+44G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+44G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+44G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-73972098-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972098
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972098
    reference: chr 7
allele count: 1
allele frequency: 9.059448098421843e-6
allele num: 110382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+46A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+46A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+46A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+46A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+46A>C
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+46A>C
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-73972098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972098
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972098
    reference: chr 7
allele count: 1
allele frequency: 9.059448098421843e-6
allele num: 110382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+46A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+46A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+46A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+46A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+46A>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+46A>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-73972102-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73972102
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73972102
    reference: chr 7
allele count: 1
allele frequency: 9.129752035934704e-6
allele num: 109532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2107+50A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2107+50A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.239+50A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2056+50A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2152+50A>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2203+50A>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16865
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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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1245
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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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

7-73973144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973144
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973144
    reference: chr 7
allele count: 1
allele frequency: 1.025241444360147e-5
allele num: 97538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-47C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-47C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-47C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-47C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-47C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-47C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-73973145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973145
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973145
    reference: chr 7
allele count: 3
allele frequency: 3.069556142181841e-5
allele num: 97734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-46G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-46G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-46G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-46G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-46G>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-46G>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12019
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17095
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7142
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-73973154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973154
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973154
    reference: chr 7
allele count: 2
allele frequency: 2.007628990162618e-5
allele num: 99620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-37C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-37C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-37C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-37C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-37C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-37C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 10311
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 583
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genotype quality: GenotypeQuality
  all individuals: 375
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genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 179
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genotype quality: GenotypeQuality
  all individuals: 485
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genotype quality: GenotypeQuality
  all individuals: 1977
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1335
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1215
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genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-73973158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973158
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973158
    reference: chr 7
allele count: 1
allele frequency: 9.951436987500994e-6
allele num: 100488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-33C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-33C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-33C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-33C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-33C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-33C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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genotype depth: GenotypeDepth
  all individuals: 4893
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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
  all individuals: 92
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10211
  bin: 2.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

7-73973163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973163
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973163
    reference: chr 7
allele count: 2
allele frequency: 1.970288056113804e-5
allele num: 101508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-28C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-28C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-28C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-28C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-28C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-28C>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  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
  all individuals: 11169
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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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  bin: 5.75e1
  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
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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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  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: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23222
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-73973163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973163
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973163
    reference: chr 7
allele count: 95
allele frequency: 9.358868266540569e-4
allele num: 101508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-28C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-28C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-28C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-28C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-28C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-28C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25353
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-73973164-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973164
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973164
    reference: chr 7
allele count: 3
allele frequency: 2.932723326881342e-5
allele num: 102294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-27G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-27G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-27G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-27G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-27G>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-27G>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-73973170-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973170
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973171
    reference: chr 7
allele count: 1
allele frequency: 9.504619244953047e-6
allele num: 105212
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-20dupA
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-20dupA
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-20dupA
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-20dupA
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-20dupA
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-20dupA
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-73973172-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973172
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973172
    reference: chr 7
allele count: 1
allele frequency: 9.424360085950164e-6
allele num: 106108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-19C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-19C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-19C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-19C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-19C>A
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-19C>A
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

7-73973172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973172
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973172
    reference: chr 7
allele count: 14
allele frequency: 1.319410412033023e-4
allele num: 106108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-19C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-19C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-19C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-19C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-19C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-19C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30592
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

7-73973180-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973180
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973180
    reference: chr 7
allele count: 1
allele frequency: 9.070788432930591e-6
allele num: 110244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-11C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-11C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-11C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-11C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-11C>G
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-11C>G
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-73973182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73973182
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73973182
    reference: chr 7
allele count: 14
allele frequency: 1.262876833426546e-4
allele num: 110858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000417909
  ensembl transcript: ENST00000470715
  gene symbol: GTF2IRD1
  hgvsc: ENST00000470715.1:c.240-9C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000397566
  ensembl transcript: ENST00000455841
  gene symbol: GTF2IRD1
  hgvsc: ENST00000455841.2:c.2204-9C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000265755
  ensembl transcript: ENST00000265755
  gene symbol: GTF2IRD1
  hgvsc: ENST00000265755.3:c.2153-9C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000418383
  ensembl transcript: ENST00000476977
  gene symbol: GTF2IRD1
  hgvsc: ENST00000476977.1:c.2108-9C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl protein: ENSP00000408477
  ensembl transcript: ENST00000424337
  gene symbol: GTF2IRD1
  hgvsc: ENST00000424337.2:c.2108-9C>T
  variant of: http://identifiers.org/hgnc/4661
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006704
  ensembl transcript: ENST00000489094
  gene symbol: GTF2IRD1
  hgvsc: ENST00000489094.1:n.2057-9C>T
  variant of: http://identifiers.org/hgnc/4661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34699
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.84e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.721227e6

VQSLOD
type: SiteQuality
SIO_000300: -4.373e0

QD
type: SiteQuality
SIO_000300: 1.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.011e0

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

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

GenotypeQuality
all individuals: 1569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6333
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 3.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 1.720357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

South 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
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 5.61e1

MQRankSum
type: SiteQuality
SIO_000300: -4.308e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
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SIO_000300: -1.145e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.720152e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

GenotypeQuality
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bin: 4.25e1
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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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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.895e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

DP
type: SiteQuality
SIO_000300: 1.717718e6

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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.0648e1

QD
type: SiteQuality
SIO_000300: 8.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.596e0

DP
type: SiteQuality
SIO_000300: 1.716833e6

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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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6408
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 1.716574e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

MQ
type: SiteQuality
SIO_000300: 5.853e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825261620832319e-4
allele num: 16436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
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: 11510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.715604e6

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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
all individuals: 2911
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variant carriers: 121

GenotypeQuality
all individuals: 778
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010778587342687e-5
allele num: 66428
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.82472613458529e-4
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 106
allele frequency: 1.027131782945736e-2
allele num: 10320
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

QD
type: SiteQuality
SIO_000300: 1.199e1

DP
type: SiteQuality
SIO_000300: 1.715076e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

FS
type: SiteQuality
SIO_000300: 1.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.57331655129012e-4
allele num: 6356
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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European (Non-Finnish)
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allele count: 87
allele frequency: 1.309846431797651e-3
allele num: 66420
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.877471888328809e-4
allele num: 10316
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 1.878e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.88e1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8634
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66364
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South Asian
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Other
type: Population
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African
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allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66292
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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DP
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SIO_000300: 1.70283e6

BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66152
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East Asian
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5752
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519664458087654e-5
allele num: 65804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: -4.003e-1

DP
type: SiteQuality
SIO_000300: 1.676823e6

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

GenotypeQuality
all individuals: 2924
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

QD
type: SiteQuality
SIO_000300: 1.297e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.658814e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

FS
type: SiteQuality
SIO_000300: 1.0738e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531956614988664e-5
allele num: 65276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.647665e6

FS
type: SiteQuality
SIO_000300: 1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.775e0

MQRankSum
type: SiteQuality
SIO_000300: -1.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.246e1

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
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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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65164
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.931761343336905e-5
allele num: 11196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.640664e6

VQSLOD
type: SiteQuality
SIO_000300: -7.56e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
all individuals: 1160
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.218620521569583e-4
allele num: 8206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.01999184006528e-3
allele num: 9804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.454719e6

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

FS
type: SiteQuality
SIO_000300: 9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.673999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-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
all individuals: 2376
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GenotypeQuality
all individuals: 1126
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.373828271466067e-5
allele num: 10668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.053e-1

DP
type: SiteQuality
SIO_000300: 1.439086e6

MQ
type: SiteQuality
SIO_000300: 5.88e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586495748191395e-5
allele num: 63032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.439086e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
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
allele num: 10642
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.405857e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.841e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.595812587769692e-5
allele num: 62664
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.71253534401508e-4
allele num: 10610
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9752
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.175e0

VQSLOD
type: SiteQuality
SIO_000300: -1.527e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.382061e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.618332470222682e-5
allele num: 61792
num of homozygotes: 0

Latino
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allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 814
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VQSLOD
type: SiteQuality
SIO_000300: -8.826000000000001e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
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GenotypeQuality
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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: 11095
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61054
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5682
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African
type: Population
allele count: 1
allele frequency: 1.048218029350105e-4
allele num: 9540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.223307e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 2.078e1

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
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GenotypeQuality
all individuals: 3720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.52018278750952e-5
allele num: 10504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60686
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.150994e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -8.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.719e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 672
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26891
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 923
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variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.895375284306293e-4
allele num: 10552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61064
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 1.188477e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42495
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variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

FS
type: SiteQuality
SIO_000300: 6.19e0

DP
type: SiteQuality
SIO_000300: 1.355723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.040129712201054e-4
allele num: 9868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.423654871546292e-4
allele num: 8252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57217872527749e-5
allele num: 63606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 6.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.355723e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

GenotypeQuality
all individuals: 2597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43609
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.390259171153124e-5
allele num: 63896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.366279e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 1.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 44315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.237e1

VQSLOD
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 1.376816e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.081e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4541
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1188
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 558
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 14

South Asian
type: Population
allele count: 277
allele frequency: 1.726071784646062e-2
allele num: 16048
num of homozygotes: 3

Other
type: Population
allele count: 36
allele frequency: 4.072398190045249e-2
allele num: 884
num of homozygotes: 1

African
type: Population
allele count: 51
allele frequency: 5.09185303514377e-3
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 697
allele frequency: 1.075617283950617e-1
allele num: 6480
num of homozygotes: 38

East Asian
type: Population
allele count: 3
allele frequency: 3.539405379896178e-4
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2555
allele frequency: 3.939739715043484e-2
allele num: 64852
num of homozygotes: 60

Latino
type: Population
allele count: 167
allele frequency: 1.486029542623243e-2
allele num: 11238
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 1.454697e6

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.602356406480118e-5
allele num: 65184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.420025e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.527650473571647e-4
allele num: 6546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.434776e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

VQSLOD
type: SiteQuality
SIO_000300: -3.029e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

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

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1422
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.448951e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 3.672e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.882e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 48888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 9.75e1
variant carriers: 16

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.555609284332689e-5
allele num: 66176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.879834085641088e-4
allele num: 16394
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.450705e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1422
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GenotypeQuality
all individuals: 5462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 48957
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.451563e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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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
all individuals: 857
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 49130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.453146e6

QD
type: SiteQuality
SIO_000300: 1.034e1

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 49234
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variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
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: 2
allele frequency: 3.016955288722621e-5
allele num: 66292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 4.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.454315e6

FS
type: SiteQuality
SIO_000300: 3.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

GenotypeQuality
all individuals: 5480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01568154402895e-5
allele num: 66320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.872e1

DP
type: SiteQuality
SIO_000300: 1.456402e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -9.896e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 9.75e1
variant carriers: 162

European (Non-Finnish)
type: Population
allele count: 141
allele frequency: 2.125414531202894e-3
allele num: 66340
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.606882168925965e-4
allele num: 11508
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.759456838021338e-4
allele num: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.861448711716091e-4
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 1.461853e6

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
all individuals: 49437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1364
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variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 5493
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variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015135982632817e-5
allele num: 66332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.458683e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49433
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522840343735866e-5
allele num: 66330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 4.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 1.459129e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.096e0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.459366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.908103916246607e-4
allele num: 10316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.096e0

QD
type: SiteQuality
SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.459366e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.460149e6

VQSLOD
type: SiteQuality
SIO_000300: -6.389e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 1.0083e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.457e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

FS
type: SiteQuality
SIO_000300: 8.057e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.446594e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.819e0

FS
type: SiteQuality
SIO_000300: 1.114e0

DP
type: SiteQuality
SIO_000300: 1.42841e6

VQSLOD
type: SiteQuality
SIO_000300: -2.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

MQ
type: SiteQuality
SIO_000300: 5.852e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531112199902009e-5
allele num: 65312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 2.299e0

DP
type: SiteQuality
SIO_000300: 1.417938e6

MQ
type: SiteQuality
SIO_000300: 5.692e1

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -2.312e0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 1.405412e6

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 43811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.613113544101365e-5
allele num: 65032
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.235941169200346e-4
allele num: 16182
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.980590215884333e-4
allele num: 10098
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

DP
type: SiteQuality
SIO_000300: 1.405412e6

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 4779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.028197381671702e-4
allele num: 9930
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.790189760114572e-4
allele num: 11172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.669551411761044e-5
allele num: 64246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.142e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.352885e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.015e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576839383140433e-5
allele num: 63418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.078e0

DP
type: SiteQuality
SIO_000300: 1.290983e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4115
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.157509157509158e-5
allele num: 10920
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.457002457002457e-4
allele num: 8140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.429388221841052e-4
allele num: 62964
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.056766762649116e-4
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 2.064e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 1.259284e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.360716216645994e-5
allele num: 62886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.058460271716756e-4
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.257624e6

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 488
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.465795939480151e-5
allele num: 61864
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.287332646755922e-4
allele num: 15536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.256281407035176e-4
allele num: 7960
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.148709e6

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 17237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.358038555118848e-5
allele num: 10686
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.864601913410086e-5
allele num: 61670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.439979392065946e-5
allele num: 15528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.142871e6

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 2.525e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.264222503160556e-4
allele num: 7910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.242016534284325e-5
allele num: 61690
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.136298e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQ
type: SiteQuality
SIO_000300: 5.813e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 832
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.375585974123383e-5
allele num: 10666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622533748701973e-5
allele num: 61632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.130863e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 2.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeQuality
all individuals: 4824
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 754
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65000165000165e-5
allele num: 60606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.164e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

FS
type: SiteQuality
SIO_000300: 4.746e0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.097972e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 8591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.650219479190732e-5
allele num: 60598
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 3.485e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.096377e6

GenotypeQuality
all individuals: 2816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2522
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.600614439324117e-5
allele num: 10416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 3.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.096377e6

GenotypeQuality
all individuals: 7823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.089087344805053e-4
allele num: 9182
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.094988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 2.869e0

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
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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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55970
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.071e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.228e1

DP
type: SiteQuality
SIO_000300: 9.99892e5

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 245
bin: 5.75e1
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GenotypeQuality
all individuals: 2997
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6770
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.570408454727221e-5
allele num: 56016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.73e1

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 1.014576e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 18307
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GenotypeQuality
all individuals: 1295
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variant carriers: 2

GenotypeQuality
all individuals: 4060
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.508771929824561e-5
allele num: 57000
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

MQ
type: SiteQuality
SIO_000300: 5.751e1

FS
type: SiteQuality
SIO_000300: 3.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.081118e6

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
all individuals: 867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5821
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.323451561672843e-4
allele num: 7556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.684e1

VQSLOD
type: SiteQuality
SIO_000300: -9.202e-1

DP
type: SiteQuality
SIO_000300: 1.112375e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1177
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728070781779222e-5
allele num: 57868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

DP
type: SiteQuality
SIO_000300: 1.155303e6

GenotypeQuality
all individuals: 630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 23222
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 2
allele frequency: 1.854255516410161e-4
allele num: 10786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

East Asian
type: Population
allele count: 79
allele frequency: 1.032140057486282e-2
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.900877859957144e-4
allele num: 57868
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.126633618747183e-4
allele num: 8876
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.994415636218588e-4
allele num: 10028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.155303e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
all individuals: 3209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719040088014852e-5
allele num: 58172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.04649900488511e-5
allele num: 11054
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.299038711353598e-4
allele num: 7698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.177112e6

FS
type: SiteQuality
SIO_000300: 2.123e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQ
type: SiteQuality
SIO_000300: 5.707e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

GenotypeQuality
all individuals: 3302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28794
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.525149190110827e-5
allele num: 11730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 2.436e0

DP
type: SiteQuality
SIO_000300: 1.233114e6

MQ
type: SiteQuality
SIO_000300: 6.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 2376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.434547908232118e-5
allele num: 11856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.251973e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 1.1887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.807e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
all individuals: 663
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7877
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11856
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.522401043932144e-3
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.807e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.1887e1

DP
type: SiteQuality
SIO_000300: 1.251973e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.323083e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 7.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0