7-74524787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524787
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524787
    reference: chr 7
allele count: 1
allele frequency: 3.339344152808389e-5
allele num: 29946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.31G>A
  hgvsp: ENSP00000405571.1:p.Val11Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.199G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.31G>A
  hgvsp: ENSP00000413588.2:p.Val11Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.31G>A
  hgvsp: ENSP00000308080.7:p.Val11Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.31G>A
  hgvsp: ENSP00000348427.5:p.Val11Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.229G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val11Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

7-74524789-TGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524789
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524786
    reference: chr 7
allele count: 1
allele frequency: 3.296196189597204e-5
allele num: 30338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.39_41delAGA
  hgvsp: ENSP00000348427.5:p.Glu14del
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.237_239delAGA
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.207_209delAGA
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.39_41delAGA
  hgvsp: ENSP00000413588.2:p.Glu14del
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.39_41delAGA
  hgvsp: ENSP00000405571.1:p.Glu14del
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.39_41delAGA
  hgvsp: ENSP00000308080.7:p.Glu14del
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu14del
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TGAA
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-74524800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524800
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524800
    reference: chr 7
allele count: 1
allele frequency: 3.130478337089907e-5
allele num: 31944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.44C>T
  hgvsp: ENSP00000413588.2:p.Ser15Phe
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.44C>T
  hgvsp: ENSP00000348427.5:p.Ser15Phe
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.212C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.44C>T
  hgvsp: ENSP00000405571.1:p.Ser15Phe
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.44C>T
  hgvsp: ENSP00000308080.7:p.Ser15Phe
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.242C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser15Phe
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-74524813-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524813
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524813
    reference: chr 7
allele count: 7
allele frequency: 2.217716385755924e-4
allele num: 31564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.57C>G
  hgvsp: ENST00000356115.5:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.57C>G
  hgvsp: ENST00000423666.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.57C>G
  hgvsp: ENST00000312575.7:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.57C>G
  hgvsp: ENST00000430511.2:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.225C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.255C>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11361
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr19Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-74524835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524835
    reference: chr 7
allele count: 3
allele frequency: 1.023192360163711e-4
allele num: 29320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.79G>A
  hgvsp: ENSP00000348427.5:p.Val27Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.247G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.277G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.79G>A
  hgvsp: ENSP00000405571.1:p.Val27Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.79G>A
  hgvsp: ENSP00000308080.7:p.Val27Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.79G>A
  hgvsp: ENSP00000413588.2:p.Val27Met
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24176
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Val27Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-74524839-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524839
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524839
    reference: chr 7
allele count: 1
allele frequency: 3.49088878028346e-5
allele num: 28646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.83C>G
  hgvsp: ENSP00000413588.2:p.Ser28Cys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.83C>G
  hgvsp: ENSP00000348427.5:p.Ser28Cys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.83C>G
  hgvsp: ENSP00000308080.7:p.Ser28Cys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.251C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.281C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.83C>G
  hgvsp: ENSP00000405571.1:p.Ser28Cys
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23028
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19625
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser28Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

7-74524847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524847
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 26730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.289G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.91G>A
  hgvsp: ENSP00000413588.2:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.91G>A
  hgvsp: ENSP00000405571.1:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.91G>A
  hgvsp: ENSP00000348427.5:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.91G>A
  hgvsp: ENSP00000308080.7:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.259G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 19950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu31Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-74524853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524853
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524853
    reference: chr 7
allele count: 1
allele frequency: 4.106438896189225e-5
allele num: 24352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.97A>G
  hgvsp: ENSP00000348427.5:p.Met33Val
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.97A>G
  hgvsp: ENSP00000308080.7:p.Met33Val
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.97A>G
  hgvsp: ENSP00000413588.2:p.Met33Val
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.97A>G
  hgvsp: ENSP00000405571.1:p.Met33Val
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.265A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.295A>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met33Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

7-74524855-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524855
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524855
    reference: chr 7
allele count: 1
allele frequency: 4.183400267737617e-5
allele num: 23904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99G>T
  hgvsp: ENSP00000405571.1:p.Met33Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99G>T
  hgvsp: ENSP00000348427.5:p.Met33Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99G>T
  hgvsp: ENSP00000413588.2:p.Met33Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99G>T
  hgvsp: ENSP00000308080.7:p.Met33Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297G>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met33Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-74524867-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524867
    reference: chr 7
allele count: 8
allele frequency: 1.45894882736988e-4
allele num: 54834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+12T>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+12T>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+12T>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+12T>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+12T>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+12T>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6977
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29508
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-74524869-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524869
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524869
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 60842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+14A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+14A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+14A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+14A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+14A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+14A>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

7-74524872-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524872
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524872
    reference: chr 7
allele count: 1
allele frequency: 1.441503776739895e-5
allele num: 69372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+17C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+17C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+17C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+17C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+17C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+17C>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23094
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

7-74524874-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524874
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524874
    reference: chr 7
allele count: 3
allele frequency: 4.05120725976341e-5
allele num: 74052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+19T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+19T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+19T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+19T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+19T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+19T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

7-74524882-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524882
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524882
    reference: chr 7
allele count: 2
allele frequency: 2.240193552722955e-5
allele num: 89278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+27A>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+27A>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+27A>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+27A>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+27A>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+27A>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

7-74524885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524885
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524885
    reference: chr 7
allele count: 1
allele frequency: 1.059366922327217e-5
allele num: 94396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+30C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+30C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+30C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+30C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+30C>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+30C>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 36848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6636
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-74524888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524888
    reference: chr 7
allele count: 2
allele frequency: 1.998481154322715e-5
allele num: 100076
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+33T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+33T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+33T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+33T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+33T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+33T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

7-74524890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524890
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524890
    reference: chr 7
allele count: 1
allele frequency: 9.789141883822464e-6
allele num: 102154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+35G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+35G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+35G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+35G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+35G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+35G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

7-74524894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524894
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524894
    reference: chr 7
allele count: 1
allele frequency: 9.542531060938603e-6
allele num: 104794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+39G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+39G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+39G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+39G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+39G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+39G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7354
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-74524902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524902
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524902
    reference: chr 7
allele count: 1
allele frequency: 9.281948466622114e-6
allele num: 107736
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+47T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+47T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+47T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+47T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+47T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+47T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

7-74524903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524903
    reference: chr 7
allele count: 5
allele frequency: 4.629458168215992e-5
allele num: 108004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+48C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+48C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+48C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+48C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+48C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+48C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

7-74524904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74524904
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74524904
    reference: chr 7
allele count: 16
allele frequency: 1.478060046189376e-4
allele num: 108250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.99+49G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.297+49G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.267+49G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.99+49G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.99+49G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.99+49G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-74528232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528232
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528232
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 5034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.339C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.141C>T
  hgvsp: ENST00000430511.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.141C>T
  hgvsp: ENST00000423666.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.141C>T
  hgvsp: ENST00000312575.7:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.141C>T
  hgvsp: ENST00000356115.5:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.309C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile47Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

7-74528233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528233
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528233
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 5328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.142G>A
  hgvsp: ENSP00000405571.1:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.340G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.142G>A
  hgvsp: ENSP00000413588.2:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.142G>A
  hgvsp: ENSP00000308080.7:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.142G>A
  hgvsp: ENSP00000348427.5:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.310G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17479
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala48Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-74528237-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528237
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528237
    reference: chr 7
allele count: 1
allele frequency: 1.660026560424967e-4
allele num: 6024
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.146T>A
  hgvsp: ENSP00000308080.7:p.Val49Glu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.146T>A
  hgvsp: ENSP00000405571.1:p.Val49Glu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.146T>A
  hgvsp: ENSP00000348427.5:p.Val49Glu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.314T>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.146T>A
  hgvsp: ENSP00000413588.2:p.Val49Glu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.344T>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28794
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val49Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

7-74528242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528242
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528242
    reference: chr 7
allele count: 1
allele frequency: 1.446340757882557e-4
allele num: 6914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.151G>A
  hgvsp: ENSP00000405571.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.151G>A
  hgvsp: ENSP00000308080.7:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.151G>A
  hgvsp: ENSP00000413588.2:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.151G>A
  hgvsp: ENSP00000348427.5:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.349G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.319G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22491
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu51Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

7-74528242-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528242
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528242
    reference: chr 7
allele count: 15
allele frequency: 2.169511136823836e-3
allele num: 6914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.151G>C
  hgvsp: ENSP00000413588.2:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.151G>C
  hgvsp: ENSP00000308080.7:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.151G>C
  hgvsp: ENSP00000405571.1:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.151G>C
  hgvsp: ENSP00000348427.5:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.319G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.349G>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28117
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22491
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu51Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-74528251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528251
    reference: chr 7
allele count: 2
allele frequency: 2.308402585410896e-4
allele num: 8664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.328G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.160G>A
  hgvsp: ENSP00000348427.5:p.Val54Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.160G>A
  hgvsp: ENSP00000405571.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.160G>A
  hgvsp: ENSP00000413588.2:p.Val54Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.160G>A
  hgvsp: ENSP00000308080.7:p.Val54Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.358G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val54Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-74528252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528252
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528252
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 8898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.161T>C
  hgvsp: ENSP00000348427.5:p.Val54Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.329T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.359T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.161T>C
  hgvsp: ENSP00000405571.1:p.Val54Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.161T>C
  hgvsp: ENSP00000308080.7:p.Val54Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.161T>C
  hgvsp: ENSP00000413588.2:p.Val54Ala
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27222
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val54Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-74528259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528259
    reference: chr 7
allele count: 1
allele frequency: 9.417969485778867e-5
allele num: 10618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.366C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.168C>T
  hgvsp: ENST00000312575.7:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.168C>T
  hgvsp: ENST00000430511.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.168C>T
  hgvsp: ENST00000356115.5:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.336C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.168C>T
  hgvsp: ENST00000423666.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val56Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-74528260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528260
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528260
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 11550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.169G>A
  hgvsp: ENSP00000308080.7:p.Val57Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.169G>A
  hgvsp: ENSP00000348427.5:p.Val57Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.367G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.169G>A
  hgvsp: ENSP00000413588.2:p.Val57Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.169G>A
  hgvsp: ENSP00000405571.1:p.Val57Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.337G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31099
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val57Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-74528262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528262
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528262
    reference: chr 7
allele count: 2
allele frequency: 1.594896331738437e-4
allele num: 12540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.171C>T
  hgvsp: ENST00000430511.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.171C>T
  hgvsp: ENST00000356115.5:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.171C>T
  hgvsp: ENST00000423666.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.369C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.171C>T
  hgvsp: ENST00000312575.7:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.339C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val57Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-74528268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528268
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528268
    reference: chr 7
allele count: 1
allele frequency: 5.983724269985639e-5
allele num: 16712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.177C>T
  hgvsp: ENST00000312575.7:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.177C>T
  hgvsp: ENST00000423666.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.177C>T
  hgvsp: ENST00000430511.2:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.375C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.345C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.177C>T
  hgvsp: ENST00000356115.5:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr59Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-74528269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528269
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528269
    reference: chr 7
allele count: 79
allele frequency: 4.379642975939683e-3
allele num: 18038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.376G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.178G>A
  hgvsp: ENSP00000413588.2:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.178G>A
  hgvsp: ENSP00000348427.5:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.178G>A
  hgvsp: ENSP00000405571.1:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.178G>A
  hgvsp: ENSP00000308080.7:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.346G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34465
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14054
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13663
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.25e1
  variant carriers: 4
hgvs: p.Glu60Lys
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

7-74528280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528280
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528280
    reference: chr 7
allele count: 2
allele frequency: 8.045699573577922e-5
allele num: 24858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.357C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.189C>T
  hgvsp: ENST00000430511.2:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.189C>T
  hgvsp: ENST00000312575.7:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.189C>T
  hgvsp: ENST00000423666.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.387C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.189C>T
  hgvsp: ENST00000356115.5:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34735
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10637
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34473
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys63Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-74528281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528281
    reference: chr 7
allele count: 1
allele frequency: 3.830243603493182e-5
allele num: 26108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.190G>A
  hgvsp: ENSP00000413588.2:p.Ala64Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.190G>A
  hgvsp: ENSP00000308080.7:p.Ala64Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.190G>A
  hgvsp: ENSP00000405571.1:p.Ala64Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.388G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.190G>A
  hgvsp: ENSP00000348427.5:p.Ala64Thr
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.358G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala64Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-74528295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528295
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528295
    reference: chr 7
allele count: 13
allele frequency: 3.942021954029959e-4
allele num: 32978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.204C>T
  hgvsp: ENST00000356115.5:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.204C>T
  hgvsp: ENST00000312575.7:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.204C>T
  hgvsp: ENST00000430511.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.204C>T
  hgvsp: ENST00000423666.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.372C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.402C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33918
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala68Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

7-74528296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528296
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 33536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.205A>G
  hgvsp: ENSP00000348427.5:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.205A>G
  hgvsp: ENSP00000308080.7:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.403A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.205A>G
  hgvsp: ENSP00000413588.2:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.373A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.205A>G
  hgvsp: ENSP00000405571.1:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33810
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg69Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-74528303-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528303
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528302
    reference: chr 7
allele count: 1
allele frequency: 2.811515969410706e-5
allele num: 35568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.216delT
  hgvsp: ENSP00000405571.1:p.Gln73ArgfsTer16
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.216delT
  hgvsp: ENSP00000413588.2:p.Gln73ArgfsTer16
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.216delT
  hgvsp: ENSP00000348427.5:p.Gln73ArgfsTer16
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.216delT
  hgvsp: ENSP00000308080.7:p.Gln73ArgfsTer16
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.384delT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.414delT
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34970
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln73ArgfsTer16
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: AT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-74528328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528328
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528328
    reference: chr 7
allele count: 1
allele frequency: 2.729108673107363e-5
allele num: 36642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.237C>T
  hgvsp: ENST00000356115.5:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.237C>T
  hgvsp: ENST00000430511.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.435C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.405C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.237C>T
  hgvsp: ENST00000423666.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.237C>T
  hgvsp: ENST00000312575.7:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
hgvs: c.237C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-74528329-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528329
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528328
    reference: chr 7
allele count: 1
allele frequency: 2.793296089385475e-5
allele num: 35800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+1delG
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+1delG
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+1delG
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+1delG
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.407delG
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+1delG
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
hgvs: c.238+1delG
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: TG
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

7-74528330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528330
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528330
    reference: chr 7
allele count: 1
allele frequency: 2.785515320334262e-5
allele num: 35900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+1G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+1G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+1G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+1G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+1G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.407G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
hgvs: c.238+1G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-74528335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528335
    reference: chr 7
allele count: 2
allele frequency: 5.921013677541595e-5
allele num: 33778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+6T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+6T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+6T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.412T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+6T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+6T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26571
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
hgvs: c.238+6T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-74528363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528363
    reference: chr 7
allele count: 1
allele frequency: 4.616378912381128e-5
allele num: 21662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+34A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+34A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.440A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+34A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+34A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+34A>G
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-74528366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528366
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528366
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 19876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.443T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+37T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+37T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+37T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+37T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+37T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30242
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

7-74528377-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74528377
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74528377
    reference: chr 7
allele count: 1
allele frequency: 5.753077896674721e-5
allele num: 17382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000483059
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000483059.1:n.454G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.238+48G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.238+48G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.238+48G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.238+48G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.436+48G>T
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-74536641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536641
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536641
    reference: chr 7
allele count: 1
allele frequency: 8.497909514259493e-6
allele num: 117676
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-51G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-51G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-51G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.214G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-51G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-51G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-74536648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536648
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536648
    reference: chr 7
allele count: 1
allele frequency: 8.540001366400219e-6
allele num: 117096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-44A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-44A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-44A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-44A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.221A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-44A>C
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

7-74536659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536659
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536659
    reference: chr 7
allele count: 1
allele frequency: 8.736676568233443e-6
allele num: 114460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-33G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-33G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-33G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-33G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-33G>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.232G>T
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

7-74536661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536661
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536661
    reference: chr 7
allele count: 13
allele frequency: 1.149242384059124e-4
allele num: 113118
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-31A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-31A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.234A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-31A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-31A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-31A>G
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

7-74536665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536665
    reference: chr 7
allele count: 15
allele frequency: 1.344905497973676e-4
allele num: 111532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-27G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.238G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-27G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-27G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-27G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-27G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

7-74536665-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536665
    reference: chr 7
allele count: 1
allele frequency: 8.966036653157838e-6
allele num: 111532
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-27G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.238G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-27G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-27G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-27G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-27G>C
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-74536667-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536667
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536667
    reference: chr 7
allele count: 1
allele frequency: 9.127752017233197e-6
allele num: 109556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-25C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-25C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-25C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.240C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-25C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-25C>A
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

7-74536667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536667
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536667
    reference: chr 7
allele count: 7
allele frequency: 6.389426412063237e-5
allele num: 109556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-25C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-25C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-25C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-25C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.240C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-25C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19699
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-74536668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536668
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536668
    reference: chr 7
allele count: 5
allele frequency: 4.562959718191608e-5
allele num: 109578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-24C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-24C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-24C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-24C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.241C>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-24C>A
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

7-74536675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536675
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536675
    reference: chr 7
allele count: 1
allele frequency: 9.159018885896942e-6
allele num: 109182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.248C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-17C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-17C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-17C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-17C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-17C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-74536678-T-TCATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536678
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536682
    reference: chr 7
allele count: 1
allele frequency: 9.171282879049121e-6
allele num: 109036
alternate allele: TCATC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-10_239-7dupCCAT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-10_239-7dupCCAT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-10_437-7dupCCAT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.255_258dupCCAT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-10_239-7dupCCAT
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-10_239-7dupCCAT
  variant of: http://identifiers.org/hgnc/33125
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-74536684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536684
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536684
    reference: chr 7
allele count: 1
allele frequency: 9.187798603454612e-6
allele num: 108840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.437-8A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.239-8A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.239-8A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.257A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.239-8A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.239-8A>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 2.25e1
  variant carriers: 0
hgvs: c.239-8A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

7-74536693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536693
    reference: chr 7
allele count: 9
allele frequency: 8.318852368099975e-5
allele num: 108188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.240C>T
  hgvsp: ENST00000356115.5:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.240C>T
  hgvsp: ENST00000430511.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.240C>T
  hgvsp: ENST00000312575.7:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.240C>T
  hgvsp: ENST00000423666.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.438C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.266C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
hgvs: c.240C>T
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-74536694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536694
    reference: chr 7
allele count: 7
allele frequency: 6.481001407303162e-5
allele num: 108008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.241G>A
  hgvsp: ENSP00000413588.2:p.Val81Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.241G>A
  hgvsp: ENSP00000405571.1:p.Val81Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.241G>A
  hgvsp: ENSP00000308080.7:p.Val81Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.241G>A
  hgvsp: ENSP00000348427.5:p.Val81Ile
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.267G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.439G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21150
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val81Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

7-74536695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536695
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536695
    reference: chr 7
allele count: 1
allele frequency: 9.249324799289653e-6
allele num: 108116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.242T>C
  hgvsp: ENSP00000413588.2:p.Val81Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.242T>C
  hgvsp: ENSP00000348427.5:p.Val81Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.268T>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.242T>C
  hgvsp: ENSP00000405571.1:p.Val81Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.242T>C
  hgvsp: ENSP00000308080.7:p.Val81Ala
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.440T>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val81Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

7-74536708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536708
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536708
    reference: chr 7
allele count: 11
allele frequency: 1.030348445110528e-4
allele num: 106760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.255G>A
  hgvsp: ENST00000312575.7:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.281G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.255G>A
  hgvsp: ENST00000430511.2:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.255G>A
  hgvsp: ENST00000423666.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.255G>A
  hgvsp: ENST00000356115.5:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.453G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8465
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu85Leu
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-74536713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536713
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536713
    reference: chr 7
allele count: 1
allele frequency: 9.417969485778866e-6
allele num: 106180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.260A>G
  hgvsp: ENSP00000413588.2:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.260A>G
  hgvsp: ENSP00000308080.7:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.458A>G
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.260A>G
  hgvsp: ENSP00000405571.1:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.260A>G
  hgvsp: ENSP00000348427.5:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.286A>G
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36564
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu87Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-74536715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536715
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536715
    reference: chr 7
allele count: 1
allele frequency: 9.445546424860678e-6
allele num: 105870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.262G>A
  hgvsp: ENSP00000413588.2:p.Val88Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.288G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.262G>A
  hgvsp: ENSP00000308080.7:p.Val88Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.262G>A
  hgvsp: ENSP00000348427.5:p.Val88Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.262G>A
  hgvsp: ENSP00000405571.1:p.Val88Met
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.460G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val88Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

7-74536722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536722
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536722
    reference: chr 7
allele count: 1
allele frequency: 9.62334237927517e-6
allele num: 103914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.269C>T
  hgvsp: ENSP00000308080.7:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.269C>T
  hgvsp: ENSP00000348427.5:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.269C>T
  hgvsp: ENSP00000413588.2:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.269C>T
  hgvsp: ENSP00000405571.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.467C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.295C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro90Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

7-74536738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536738
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536738
    reference: chr 7
allele count: 2
allele frequency: 2.037282265457879e-5
allele num: 98170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.285C>T
  hgvsp: ENST00000312575.7:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.285C>T
  hgvsp: ENST00000430511.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.311C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.483C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.285C>T
  hgvsp: ENST00000423666.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.285C>T
  hgvsp: ENST00000356115.5:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn95Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-74536739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536739
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536739
    reference: chr 7
allele count: 1
allele frequency: 1.020929045431343e-5
allele num: 97950
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.286G>A
  hgvsp: ENSP00000308080.7:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.286G>A
  hgvsp: ENSP00000413588.2:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.286G>A
  hgvsp: ENSP00000405571.1:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.286G>A
  hgvsp: ENSP00000348427.5:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.312G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.484G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29586
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly96Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-74536746-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536746
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536746
    reference: chr 7
allele count: 1
allele frequency: 1.073283819173142e-5
allele num: 93172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.293A>C
  hgvsp: ENSP00000348427.5:p.Gln98Pro
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.491A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.293A>C
  hgvsp: ENSP00000413588.2:p.Gln98Pro
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.293A>C
  hgvsp: ENSP00000405571.1:p.Gln98Pro
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.319A>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.293A>C
  hgvsp: ENSP00000308080.7:p.Gln98Pro
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln98Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-74536753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536753
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536753
    reference: chr 7
allele count: 2
allele frequency: 2.273915910589626e-5
allele num: 87954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.300C>T
  hgvsp: ENST00000312575.7:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.300C>T
  hgvsp: ENST00000356115.5:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.300C>T
  hgvsp: ENST00000430511.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.326C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.300C>T
  hgvsp: ENST00000423666.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.498C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His100His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-74536755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536755
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536755
    reference: chr 7
allele count: 13
allele frequency: 1.52431874677548e-4
allele num: 85284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.302C>T
  hgvsp: ENSP00000308080.7:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.302C>T
  hgvsp: ENSP00000348427.5:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.302C>T
  hgvsp: ENSP00000413588.2:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.302C>T
  hgvsp: ENSP00000405571.1:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.500C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.328C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22634
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser101Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

7-74536756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536756
    reference: chr 7
allele count: 15
allele frequency: 1.76890964409538e-4
allele num: 84798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.329G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.303G>A
  hgvsp: ENST00000430511.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.303G>A
  hgvsp: ENST00000312575.7:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.303G>A
  hgvsp: ENST00000423666.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.501G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.303G>A
  hgvsp: ENST00000356115.5:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser101Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-74536756-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536756
    reference: chr 7
allele count: 2
allele frequency: 2.358546192127173e-5
allele num: 84798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.303G>C
  hgvsp: ENST00000430511.2:c.303G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.303G>C
  hgvsp: ENST00000312575.7:c.303G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.303G>C
  hgvsp: ENST00000356115.5:c.303G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.501G>C
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.303G>C
  hgvsp: ENST00000423666.1:c.303G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.329G>C
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser101Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

7-74536759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536759
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536759
    reference: chr 7
allele count: 3
allele frequency: 3.574322070247343e-5
allele num: 83932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.306C>T
  hgvsp: ENST00000430511.2:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.306C>T
  hgvsp: ENST00000356115.5:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.306C>T
  hgvsp: ENST00000423666.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.332C>T
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.306C>T
  hgvsp: ENST00000312575.7:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.504C>T
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly102Gly
num of homozygotes: 1
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

7-74536760-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74536760
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 74536760
    reference: chr 7
allele count: 1
allele frequency: 1.201576468326444e-5
allele num: 83224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000413588
  ensembl transcript: ENST00000430511
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000430511.2:c.307G>A
  hgvsp: ENSP00000413588.2:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000405571
  ensembl transcript: ENST00000423666
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000423666.1:c.307G>A
  hgvsp: ENSP00000405571.1:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000348427
  ensembl transcript: ENST00000356115
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000356115.5:c.307G>A
  hgvsp: ENSP00000348427.5:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174428
  ensembl protein: ENSP00000308080
  ensembl transcript: ENST00000312575
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000312575.7:c.307G>A
  hgvsp: ENSP00000308080.7:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000398546
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000398546.3:n.505G>A
  variant of: http://identifiers.org/hgnc/33125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174428
  ensembl transcript: ENST00000528574
  gene symbol: GTF2IRD2B
  hgvsc: ENST00000528574.1:n.333G>A
  variant of: http://identifiers.org/hgnc/33125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu103Lys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 9398
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.879699248120301e-4
allele num: 5320
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

BaseQRankSum
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SIO_000300: -3.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.232e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.80868e5

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

South Asian
type: Population
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allele frequency: 1.851166234727879e-4
allele num: 5402
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

DP
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SIO_000300: 5.81156e5

MQRankSum
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ReadPosRankSum
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SIO_000300: -4.37e-1

QD
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VQSLOD
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SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1450
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 5.895531187359981e-5
allele num: 16962
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5706
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.463e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
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SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
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SIO_000300: -2.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

DP
type: SiteQuality
SIO_000300: 5.88347e5

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5788
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.615328994938539e-4
allele num: 16596
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 252
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European (Finnish)
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allele count: 1
allele frequency: 5.330490405117271e-4
allele num: 1876
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.554e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.43e-2

MQ
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SIO_000300: 2.2e1

DP
type: SiteQuality
SIO_000300: 5.64604e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 2.99e0

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: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14980
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.718213058419244e-4
allele num: 5820
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.640106241699867e-4
allele num: 3012
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 5.03869e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
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SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.369272237196766e-4
allele num: 2968
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1966
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
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SIO_000300: 4.90996e5

MQ
type: SiteQuality
SIO_000300: 2.2e1

QD
type: SiteQuality
SIO_000300: 1.71e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 6.840000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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African
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Other
type: Population
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
type: SiteQuality
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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allele frequency: 3.743916136278548e-4
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African
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allele frequency: 1.2636899747262e-3
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European (Non-Finnish)
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allele frequency: 1.011940902651285e-4
allele num: 29646
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Latino
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Other
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -6.219e0

QD
type: SiteQuality
SIO_000300: 7.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 8.28413e5

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 2.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

GenotypeQuality
all individuals: 20097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.563477173233271e-4
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.801e0

DP
type: SiteQuality
SIO_000300: 9.26549e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 4.06e0

MQ
type: SiteQuality
SIO_000300: 2.292e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6882
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.290046656298601e-5
allele num: 41152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.74873e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

FS
type: SiteQuality
SIO_000300: 2.294e0

QD
type: SiteQuality
SIO_000300: 6.15e0

MQ
type: SiteQuality
SIO_000300: 2.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.349e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 609
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variant carriers: 0

GenotypeQuality
all individuals: 6372
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.543237250554324e-4
allele num: 3608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12752
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 2.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

QD
type: SiteQuality
SIO_000300: 6.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.118986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
SIO_000300: 1.3257e1

VQSLOD
type: SiteQuality
SIO_000300: -7.36e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
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GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.097694840834248e-4
allele num: 9110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13380
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.26e0

FS
type: SiteQuality
SIO_000300: 2.801e0

QD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.164865e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 36101
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variant carriers: 0

GenotypeQuality
all individuals: 771
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GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 7043
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753586083540841e-5
allele num: 57026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 1.215142e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 2.3e1

FS
type: SiteQuality
SIO_000300: 1.1118e1

QD
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7822
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 986
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variant carriers: 1

GenotypeQuality
all individuals: 331
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
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: 9812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.717091933102098e-5
allele num: 58238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.652e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 2.294e1

DP
type: SiteQuality
SIO_000300: 1.234505e6

FS
type: SiteQuality
SIO_000300: 1.974e0

QD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.659e0

GenotypeQuality
all individuals: 25
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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: 1038
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.258278e6

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 2.3e1

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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632333257157781e-5
allele num: 61262
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.882e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 149
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
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East Asian
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 4
allele frequency: 2.683483161143164e-4
allele num: 14906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628823663550184e-5
allele num: 61394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 2.3e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 1.288678e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7590
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.070234113712375e-3
allele num: 14950
num of homozygotes: 2

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.861e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.292964e6

QD
type: SiteQuality
SIO_000300: 6.84e0

MQ
type: SiteQuality
SIO_000300: 2.3e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 13389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2165
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.852e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 2.38632e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.236e0

QD
type: SiteQuality
SIO_000300: 3.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 3.181e1

DP
type: SiteQuality
SIO_000300: 2.45416e5

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
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: 16
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.65154e5

VQSLOD
type: SiteQuality
SIO_000300: -5.087e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.408e0

QD
type: SiteQuality
SIO_000300: 9.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 3.107e1

GenotypeQuality
all individuals: 191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.506265664160401e-4
allele num: 3990
num of homozygotes: 0

South Asian
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: 484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.972e0

DP
type: SiteQuality
SIO_000300: 2.89587e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 3.116e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 11

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
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: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.681614349775785e-2
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.82e0

DP
type: SiteQuality
SIO_000300: 2.89587e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 3.116e1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.824817518248175e-3
allele num: 1096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.28593e5

VQSLOD
type: SiteQuality
SIO_000300: -3.776e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 3.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

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: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.508e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.33126e5

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.407407407407407e-4
allele num: 1350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.985e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.053e1

DP
type: SiteQuality
SIO_000300: 3.64903e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 110
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 502
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.252e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.02e-2

MQ
type: SiteQuality
SIO_000300: 3.028e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.765486725663717e-4
allele num: 7232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.807e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

DP
type: SiteQuality
SIO_000300: 3.93961e5

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQ
type: SiteQuality
SIO_000300: 3.198e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.0e0

GenotypeQuality
all individuals: 855
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32966
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.45812e5

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.351e1

VQSLOD
type: SiteQuality
SIO_000300: -3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

GenotypeQuality
all individuals: 709
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 33471
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.710027100271003e-3
allele num: 738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 4.365079365079365e-2
allele num: 1764
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 4.57781e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: -3.113e0

MQ
type: SiteQuality
SIO_000300: 3.198e1

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 6.435006435006435e-4
allele num: 3108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

QD
type: SiteQuality
SIO_000300: 1.005e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.23409e5

VQSLOD
type: SiteQuality
SIO_000300: -3.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 3.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
all individuals: 10195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
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variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.433962264150943e-4
allele num: 1060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.572e0

DP
type: SiteQuality
SIO_000300: 5.32486e5

VQSLOD
type: SiteQuality
SIO_000300: -4.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.616e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

MQ
type: SiteQuality
SIO_000300: 3.209e1

GenotypeQuality
all individuals: 122
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 860
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 2.520623281393217e-3
allele num: 4364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.429420505200594e-4
allele num: 1346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.26797385620915e-3
allele num: 306
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.978e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 3.193e1

DP
type: SiteQuality
SIO_000300: 5.8956e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

GenotypeQuality
all individuals: 345
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9989
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variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 5.93022e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.152e0

MQ
type: SiteQuality
SIO_000300: 3.318e1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.75e1
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GenotypeQuality
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.5486160397445e-4
allele num: 2818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 6.04661e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 3.01e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
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GenotypeQuality
all individuals: 970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQ
type: SiteQuality
SIO_000300: 3.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 5.74018e5

QD
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11607
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
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GenotypeQuality
all individuals: 160
bin: 7.75e1
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.177591384487936e-5
allele num: 19314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.57665e5

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 3.227e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

QD
type: SiteQuality
SIO_000300: 1.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeQuality
all individuals: 311
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.522997258604935e-4
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.26e0

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 3.372e1

VQSLOD
type: SiteQuality
SIO_000300: -3.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.202e0

DP
type: SiteQuality
SIO_000300: 5.5919e5

GenotypeQuality
all individuals: 15070
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.577244841048522e-5
allele num: 17930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.24422e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -3.593e0

MQRankSum
type: SiteQuality
SIO_000300: -2.264e0

MQ
type: SiteQuality
SIO_000300: 3.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.524855138761818e-4
allele num: 6558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.457e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: -3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.415e1

DP
type: SiteQuality
SIO_000300: 3.76368e5

GenotypeQuality
all individuals: 6927
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.140000000000001e-2

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

DP
type: SiteQuality
SIO_000300: 3.57341e5

VQSLOD
type: SiteQuality
SIO_000300: -2.893e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.269e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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
all individuals: 33
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GenotypeQuality
all individuals: 3493
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-4
allele num: 6628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 3.338e1

VQSLOD
type: SiteQuality
SIO_000300: -2.904e0

DP
type: SiteQuality
SIO_000300: 3.3841e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 471
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 2526
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
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: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547460617127294e-5
allele num: 64622
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQ
type: SiteQuality
SIO_000300: 3.352e1

QD
type: SiteQuality
SIO_000300: 1.121e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 3.373e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.551e0

VQSLOD
type: SiteQuality
SIO_000300: -4.325e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.813228e6

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 1

GenotypeQuality
all individuals: 1650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 1.799349e6

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 3.193e1

VQSLOD
type: SiteQuality
SIO_000300: -4.819e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 168
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35341
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GenotypeQuality
all individuals: 2557
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 1.5894e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.715855e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 3.072e1

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
all individuals: 449
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variant carriers: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.078802609696815e-4
allele num: 62536
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14880
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 2.485e0

DP
type: SiteQuality
SIO_000300: 1.638766e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.222e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1590
bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.387732445184569e-4
allele num: 14412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.103559870550162e-4
allele num: 61800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 1.521846e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 3.071e1

VQSLOD
type: SiteQuality
SIO_000300: -3.683e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 2.548e0

QD
type: SiteQuality
SIO_000300: 9.75e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61800
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186521120075937e-4
allele num: 8428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.435e0

FS
type: SiteQuality
SIO_000300: 2.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.521846e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 3.071e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2592
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639398013049608e-5
allele num: 60998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

VQSLOD
type: SiteQuality
SIO_000300: -4.448e0

DP
type: SiteQuality
SIO_000300: 1.415143e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 2.994e1

QD
type: SiteQuality
SIO_000300: 7.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeQuality
all individuals: 5397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60998
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.169103529759268e-4
allele num: 13542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.448e0

DP
type: SiteQuality
SIO_000300: 1.415143e6

QD
type: SiteQuality
SIO_000300: 7.3e0

MQ
type: SiteQuality
SIO_000300: 2.994e1

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
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variant carriers: 0

GenotypeQuality
all individuals: 5403
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.196452575325399e-5
allele num: 61002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 6.82e0

MQ
type: SiteQuality
SIO_000300: 2.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -4.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.399806e6

GenotypeQuality
all individuals: 2533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.644574548564286e-5
allele num: 60806
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.452e0

MQ
type: SiteQuality
SIO_000300: 3.1e1

QD
type: SiteQuality
SIO_000300: 1.802e1

DP
type: SiteQuality
SIO_000300: 1.34897e6

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6157
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.460459564309162e-5
allele num: 13404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.538e0

DP
type: SiteQuality
SIO_000300: 1.343601e6

MQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 3.02e1

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
all individuals: 1664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.650491846570278e-5
allele num: 60588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

MQ
type: SiteQuality
SIO_000300: 3.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.354391e6

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
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GenotypeQuality
all individuals: 1259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.25e1
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GenotypeQuality
all individuals: 1073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 8.297990042411949e-4
allele num: 10846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60178
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.956e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 3.108e1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

DP
type: SiteQuality
SIO_000300: 1.352499e6

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 36337
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
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variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.981959147159684e-4
allele num: 13414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.384358607534573e-4
allele num: 8388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664669063790118e-5
allele num: 60072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

DP
type: SiteQuality
SIO_000300: 1.350104e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 3.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.108e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 387
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variant carriers: 1

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663450662053363e-5
allele num: 60116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

FS
type: SiteQuality
SIO_000300: 8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.350452e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

MQ
type: SiteQuality
SIO_000300: 3.028e1

GenotypeQuality
all individuals: 1318
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 810
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GenotypeQuality
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GenotypeQuality
all individuals: 343
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GenotypeQuality
all individuals: 971
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.857041563966641e-4
allele num: 59234
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.373e0

DP
type: SiteQuality
SIO_000300: 1.340849e6

MQ
type: SiteQuality
SIO_000300: 3.151e1

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 1071
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699697453853214e-5
allele num: 58834
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.693e0

MQ
type: SiteQuality
SIO_000300: 3.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.333808e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.313e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 389
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.705495105229048e-5
allele num: 58634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8575e1

DP
type: SiteQuality
SIO_000300: 1.32972e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.545e0

VQSLOD
type: SiteQuality
SIO_000300: -6.702e0

MQ
type: SiteQuality
SIO_000300: 3.063e1

QD
type: SiteQuality
SIO_000300: 1.172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 10530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.418397626112759e-5
allele num: 13480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.481e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.357e0

MQ
type: SiteQuality
SIO_000300: 3.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.493e0

DP
type: SiteQuality
SIO_000300: 1.299112e6

QD
type: SiteQuality
SIO_000300: 7.17e0

GenotypeQuality
all individuals: 1138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 7.554011179936546e-5
allele num: 13238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.846381093057607e-5
allele num: 54160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.215782e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 3.24e1

VQSLOD
type: SiteQuality
SIO_000300: -4.265e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.54e-1

GenotypeQuality
all individuals: 15074
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 1

GenotypeQuality
all individuals: 733
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.544892108042855e-5
allele num: 13254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.926e0

MQ
type: SiteQuality
SIO_000300: 3.269e1

DP
type: SiteQuality
SIO_000300: 1.208769e6

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
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variant carriers: 0

GenotypeQuality
all individuals: 194
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 355
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GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.76156473144986e-5
allele num: 12884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: -4.412e0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.989e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQ
type: SiteQuality
SIO_000300: 3.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.140425e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 21688
bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2053
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variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.159214740257039e-5
allele num: 48086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12524
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.065547e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

QD
type: SiteQuality
SIO_000300: 6.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 3.151e1

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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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: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1404
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GenotypeQuality
all individuals: 18514
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.619552414605418e-3
allele num: 6792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.424501424501425e-3
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.15081515894524e-5
allele num: 46494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.406e0

MQ
type: SiteQuality
SIO_000300: 3.151e1

QD
type: SiteQuality
SIO_000300: 1.229e1

DP
type: SiteQuality
SIO_000300: 1.032307e6

GenotypeQuality
all individuals: 1229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 19370
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variant carriers: 1

GenotypeQuality
all individuals: 2115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.391594767603674e-4
allele num: 7186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.961208172934557e-4
allele num: 6754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.16478330519115e-4
allele num: 46194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.627074520013016e-4
allele num: 12292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 3.134e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 3.2734e1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.407999999999999e0

QD
type: SiteQuality
SIO_000300: 6.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.030137e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 391
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1960
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GenotypeQuality
all individuals: 1758
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.783189535207348e-4
allele num: 7186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.407999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.030137e6

MQ
type: SiteQuality
SIO_000300: 3.134e1

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.5e0
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GenotypeQuality
all individuals: 2083
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 70
bin: 9.25e1
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GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 20606
bin: 6.25e1
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GenotypeQuality
all individuals: 46
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.566563060893928e-5
allele num: 45686
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

DP
type: SiteQuality
SIO_000300: 1.011156e6

MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.23e1