1-146727489-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727489
    reference: chr 1
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10102T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-4002T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.327T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.389T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10102T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.369T>C
  hgvsp: ENST00000431239.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.369T>C
  hgvsp: ENST00000369258.4:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys123Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

1-146727491-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727491
    reference: chr 1
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-4000T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.391T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.371T>A
  hgvsp: ENSP00000358262.4:p.Val124Glu
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.371T>A
  hgvsp: ENSP00000389031.1:p.Val124Glu
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.329T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10100T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10100T>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val124Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-146727500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727500
    reference: chr 1
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.380C>T
  hgvsp: ENSP00000389031.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3991C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10091C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10091C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.380C>T
  hgvsp: ENSP00000358262.4:p.Ala127Val
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.400C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.338C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala127Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-146727504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727504
    reference: chr 1
allele count: 9
allele frequency: 7.487894570444448e-5
allele num: 120194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10087C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.404C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3987C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.342C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.384C>T
  hgvsp: ENST00000369258.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10087C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.384C>T
  hgvsp: ENST00000431239.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly128Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-146727515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727515
    reference: chr 1
allele count: 2
allele frequency: 1.666444474070124e-5
allele num: 120016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.353A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.395A>G
  hgvsp: ENSP00000389031.1:p.Glu132Gly
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.395A>G
  hgvsp: ENSP00000358262.4:p.Glu132Gly
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.415A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3976A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10076A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10076A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu132Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-146727517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727517
    reference: chr 1
allele count: 3
allele frequency: 2.500416736122687e-5
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10074A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.397A>G
  hgvsp: ENSP00000389031.1:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.355A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.397A>G
  hgvsp: ENSP00000358262.4:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.417A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3974A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10074A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg133Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

1-146727518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727518
    reference: chr 1
allele count: 2
allele frequency: 1.667444807576869e-5
allele num: 119944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.356G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.398G>A
  hgvsp: ENSP00000389031.1:p.Arg133Lys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.418G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10073G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.398G>A
  hgvsp: ENSP00000358262.4:p.Arg133Lys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10073G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3973G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg133Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-146727520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727520
    reference: chr 1
allele count: 3
allele frequency: 2.50325423049965e-5
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.420G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.400G>A
  hgvsp: ENSP00000389031.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3971G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.400G>A
  hgvsp: ENSP00000358262.4:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.358G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10071G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10071G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala134Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-146727524-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727523
    reference: chr 1
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3965delC
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.406delC
  hgvsp: ENSP00000389031.1:p.Leu136PhefsTer5
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.364delC
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.426delC
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.406delC
  hgvsp: ENSP00000358262.4:p.Leu136PhefsTer5
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10065delC
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10065delC
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu136PhefsTer5
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GC
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

1-146727527-TTCAGCAAGACCTGAAACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727509
    reference: chr 1
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsp: ENSP00000358262.4:p.Gln137_Gln142del
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsp: ENSP00000389031.1:p.Gln137_Gln142del
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 35283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln137_Gln142del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: TTCAGCAAGACCTGAAACA
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-146727553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727553
    reference: chr 1
allele count: 60
allele frequency: 5.170987313844456e-4
allele num: 116032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10038C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10038C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.433C>T
  hgvsp: ENSP00000358262.4:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.391C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.453C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.433C>T
  hgvsp: ENSP00000389031.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3938C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30629
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg145Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-146727554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727554
    reference: chr 1
allele count: 9
allele frequency: 7.796392868899323e-5
allele num: 115438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.454G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10037G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10037G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.434G>A
  hgvsp: ENSP00000389031.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3937G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.392G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.434G>A
  hgvsp: ENSP00000358262.4:p.Arg145His
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg145His
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-146727562-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727562
    reference: chr 1
allele count: 1
allele frequency: 8.843766029325928e-6
allele num: 113074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.400G>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.442G>C
  hgvsp: ENSP00000358262.4:p.Val148Leu
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3929G>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.442G>C
  hgvsp: ENSP00000389031.1:p.Val148Leu
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10029G>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.462G>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10029G>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val148Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-146727567-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727567
    reference: chr 1
allele count: 1
allele frequency: 8.991835413444593e-6
allele num: 111212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.447A>C
  hgvsp: ENST00000431239.1:c.447A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3924A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.405A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.467A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10024A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.447A>C
  hgvsp: ENST00000369258.4:c.447A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10024A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu149Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-146727570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727570
    reference: chr 1
allele count: 1
allele frequency: 9.195233191113726e-6
allele num: 108752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.450G>A
  hgvsp: ENST00000369258.4:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.450G>A
  hgvsp: ENST00000431239.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10021G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10021G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.470G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.408G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3921G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-146727576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727576
    reference: chr 1
allele count: 1
allele frequency: 9.394611250986435e-6
allele num: 106444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.456C>T
  hgvsp: ENST00000431239.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.456C>T
  hgvsp: ENST00000369258.4:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10015C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.414C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10015C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.476C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3915C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr152Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-146727578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727578
    reference: chr 1
allele count: 1
allele frequency: 9.463782105880794e-6
allele num: 105666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.416A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3913A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.458A>G
  hgvsp: ENSP00000389031.1:p.Tyr153Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.458A>G
  hgvsp: ENSP00000358262.4:p.Tyr153Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.478A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10013A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10013A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr153Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-146727590-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727591
    reference: chr 1
allele count: 1
allele frequency: 1.018371420424457e-5
allele num: 98196
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+8_420+9insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+8_462+9insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3901_-186-3900insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-10001_128-10000insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+8_482+9insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-10001_148-10000insA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+8_462+9insA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-146727593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727593
    reference: chr 1
allele count: 18286
allele frequency: 1.905665096502564e-1
allele num: 95956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+11G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+11G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9998G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3898G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9998G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+11G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+11G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 1.75e1
  variant carriers: 4082
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 1194
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.25e1
  variant carriers: 3486
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 7.5e0
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 2.75e1
  variant carriers: 2224
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 1.25e1
  variant carriers: 2604
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 691
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.5e0
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 16647
  bin: 9.75e1
  variant carriers: 14239
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 256
num of homozygotes: 2089
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-146727599-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727599
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727599
    reference: chr 1
allele count: 1
allele frequency: 1.185367819634433e-5
allele num: 84362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9992C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+17C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+17C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+17C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+17C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9992C>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3892C>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-146727604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727604
    reference: chr 1
allele count: 1
allele frequency: 1.226121287917801e-5
allele num: 81558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+22G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+22G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+22G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9987G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+22G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9987G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3887G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 895
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
  all individuals: 1851
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-146727605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727605
    reference: chr 1
allele count: 1
allele frequency: 1.244586050679544e-5
allele num: 80348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+23C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3886C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+23C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9986C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+23C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9986C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+23C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16584
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

1-146727618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727618
    reference: chr 1
allele count: 1
allele frequency: 1.370726759327796e-5
allele num: 72954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9973C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+36C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+36C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3873C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+36C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+36C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9973C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20707
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-146727626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727626
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 67796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+44C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+44C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9965C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3865C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9965C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+44C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+44C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-146727628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146727628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146727628
    reference: chr 1
allele count: 22
allele frequency: 3.491287650363411e-4
allele num: 63014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9963T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3863T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.462+46T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.482+46T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.462+46T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9963T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.420+46T>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17043
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22144
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-146728137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728137
    reference: chr 1
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-48C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9454C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-48C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-48C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9454C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3354C>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-48C>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13272
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-146728145-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728145
    reference: chr 1
allele count: 3
allele frequency: 2.611466077055659e-5
allele num: 114878
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-40A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-40A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9446A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-40A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-40A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3346A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9446A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-146728149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728149
    reference: chr 1
allele count: 30800
allele frequency: 2.916500956385054e-1
allele num: 105606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-36A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9442A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9442A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-36A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-36A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-36A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3342A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 1286
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 4.25e1
  variant carriers: 2744
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.75e1
  variant carriers: 2467
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 1910
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 355
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 706
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 961
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 9.75e1
  variant carriers: 2967
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 4.75e1
  variant carriers: 2864
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.25e1
  variant carriers: 1842
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 472
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.75e1
  variant carriers: 2348
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 1248
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 5.25e1
  variant carriers: 2759
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.25e1
  variant carriers: 358
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 11612
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 6.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 132
num of homozygotes: 4101
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-146728152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728152
    reference: chr 1
allele count: 3
allele frequency: 1.480750246791708e-4
allele num: 20260
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-33C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-33C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9439C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-33C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3339C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-33C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9439C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-146728153-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728152
    reference: chr 1
allele count: 5
allele frequency: 5.83975706610605e-4
allele num: 8562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-31delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9437delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3337delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-31delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9437delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-31delA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-31delA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: CA
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-146728155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728155
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728155
    reference: chr 1
allele count: 30
allele frequency: 3.732271709380443e-3
allele num: 8038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9436G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-30G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-30G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9436G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-30G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3336G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-30G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-146728157-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728156
    reference: chr 1
allele count: 1
allele frequency: 1.248751248751249e-4
allele num: 8008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9431delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9431delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-25delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3331delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-25delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-25delT
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-25delT
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: CT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-146728159-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728159
    reference: chr 1
allele count: 1
allele frequency: 1.236399604352127e-4
allele num: 8088
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-26T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-26T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-26T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9432T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3332T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9432T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-26T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-146728160-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728160
    reference: chr 1
allele count: 1
allele frequency: 1.220107369448512e-4
allele num: 8196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-25T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-25T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-25T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9431T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3331T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9431T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-25T>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-146728160-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728161
    reference: chr 1
allele count: 4
allele frequency: 4.880429477794046e-4
allele num: 8196
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-24dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3330dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9430dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-24dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9430dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-24dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-24dupA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-146728162-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728162
    reference: chr 1
allele count: 5
allele frequency: 4.121943578836293e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9429T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-23T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-23T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-23T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3329T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9429T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-23T>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

1-146728162-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728163
    reference: chr 1
allele count: 117249
allele frequency: 9.66587525349953e-1
allele num: 121302
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3328dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-22dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-22dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9428dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-22dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-22dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9428dupA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.25e1
  variant carriers: 1435
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 4989
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 675
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 1841
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 3.75e1
  variant carriers: 3211
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 5.25e1
  variant carriers: 5441
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 1322
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.75e1
  variant carriers: 4634
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 2152
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.75e1
  variant carriers: 3105
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 9.75e1
  variant carriers: 10027
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 5.75e1
  variant carriers: 5480
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 4.25e1
  variant carriers: 4188
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 6.25e1
  variant carriers: 5361
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 8.25e1
  variant carriers: 2464
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 3847
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 381
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 337
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 459
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 6.25e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 627
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 3
num of homozygotes: 56674
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-146728164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728164
    reference: chr 1
allele count: 4
allele frequency: 3.299132328197684e-5
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3327C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-21C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-21C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9427C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9427C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-21C>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-21C>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-146728165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728165
    reference: chr 1
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-20G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9426G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-20G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-20G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9426G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-20G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3326G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-146728167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728167
    reference: chr 1
allele count: 48
allele frequency: 3.958305845098298e-4
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9424G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483-18G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9424G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3324G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463-18G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421-18G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463-18G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37601
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-146728185-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728185
    reference: chr 1
allele count: 5
allele frequency: 4.122419365477211e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9406A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3306A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463A>T
  hgvsp: ENSP00000389031.1:p.Ile155Phe
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463A>T
  hgvsp: ENSP00000358262.4:p.Ile155Phe
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9406A>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37556
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile155Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-146728185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728185
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.463A>G
  hgvsp: ENSP00000358262.4:p.Ile155Val
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9406A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9406A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.463A>G
  hgvsp: ENSP00000389031.1:p.Ile155Val
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3306A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.483A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.421A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile155Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

1-146728193-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728193
    reference: chr 1
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.429G>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.471G>T
  hgvsp: ENSP00000389031.1:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3298G>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9398G>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.491G>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.471G>T
  hgvsp: ENSP00000358262.4:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9398G>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu157Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-146728220-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728220
    reference: chr 1
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9371A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3271A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+4A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+4A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9371A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+4A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+4A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.494+4A>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-146728221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728221
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+5G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9370G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3270G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+5G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9370G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+5G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+5G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: c.494+5G>A
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-146728224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728224
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9367G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+8G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9367G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3267G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+8G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+8G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+8G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
hgvs: c.494+8G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-146728226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728226
    reference: chr 1
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+10T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9365T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+10T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+10T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+10T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3265T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9365T>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37544
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-146728227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728227
    reference: chr 1
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9364T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+11T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9364T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+11T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3264T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+11T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+11T>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-146728230-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728230
    reference: chr 1
allele count: 4
allele frequency: 3.299839957762049e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9361A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9361A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+14A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+14A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+14A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3261A>T
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+14A>T
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37542
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-146728233-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728233
    reference: chr 1
allele count: 3
allele frequency: 2.475124993812188e-5
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9358A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+17A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+17A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+17A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9358A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3258A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+17A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37539
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-146728243-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728243
    reference: chr 1
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9348T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+27T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+27T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+27T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9348T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3248T>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+27T>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-146728244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728244
    reference: chr 1
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+28T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+28T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9347T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+28T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9347T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+28T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3247T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37532
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-146728251-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728251
    reference: chr 1
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+35A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9340A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9340A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+35A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+35A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+35A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3240A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-146728253-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728253
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+37T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3238T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9338T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+37T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9338T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+37T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+37T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-146728254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728254
    reference: chr 1
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+38G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+38G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3237G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+38G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9337G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9337G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+38G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

1-146728258-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728258
    reference: chr 1
allele count: 2
allele frequency: 1.651527663088357e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3233T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+42T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+42T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9333T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+42T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+42T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9333T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

1-146728260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728260
    reference: chr 1
allele count: 3
allele frequency: 2.477536997885835e-5
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+44T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9331T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+44T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+44T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+44T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9331T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3231T>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-146728265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146728265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146728265
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-3226G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.494+49G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.452+49G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.494+49G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.514+49G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-9326G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-9326G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-146731449-TTTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731444
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6138_148-6134delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6138_128-6134delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-38_515-34delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-38_453-34delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-38_495-34delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-38_-186-34delAATTA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-38_495-34delAATTA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: TTTAAA
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-146731457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731457
    reference: chr 1
allele count: 199
allele frequency: 1.641480797149267e-3
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-34A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6134A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-34A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-34A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6134A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-34A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-34A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 9.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 3
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-146731461-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731461
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731461
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6130A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-30A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-30A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6130A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-30A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-30A>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-30A>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-146731462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731462
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731462
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-29A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6129A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-29A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-29A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-29A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-29A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6129A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-146731477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731477
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6114G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-14G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6114G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-14G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-14G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-14G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-14G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

1-146731483-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731483
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-8T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6108T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-8T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-8T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-8T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-8T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6108T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
hgvs: c.495-8T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-146731485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731485
    reference: chr 1
allele count: 40
allele frequency: 3.296793867963405e-4
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-6T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-6T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6106T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-6T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6106T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-6T>C
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-6T>C
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 21582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: c.495-6T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/1-146731486-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731487
    reference: chr 1
allele count: 551
allele frequency: 4.54051025117015e-3
allele num: 121352
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6104dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-4dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-4dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-4dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-4dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-4dupA
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6104dupA
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 9.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: c.495-4dupA
num of homozygotes: 11
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-146731487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731487
    reference: chr 1
allele count: 1
allele frequency: 8.314348903337379e-6
allele num: 120274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.495-4A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.495-4A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6104A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-186-4A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.453-4A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.515-4A>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6104A>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
hgvs: c.495-4A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-146731493-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731493
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6098T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.517T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-184T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.455T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.497T>G
  hgvsp: ENSP00000358262.4:p.Phe166Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.497T>G
  hgvsp: ENSP00000389031.1:p.Phe166Cys
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6098T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe166Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-146731500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731500
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6091G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.524G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-177G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.462G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.504G>A
  hgvsp: ENSP00000358262.4:p.Trp168Ter
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6091G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.504G>A
  hgvsp: ENSP00000389031.1:p.Trp168Ter
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp168Ter
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

1-146731504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731504
    reference: chr 1
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6087G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-173G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6087G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.508G>A
  hgvsp: ENSP00000358262.4:p.Val170Ile
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.508G>A
  hgvsp: ENSP00000389031.1:p.Val170Ile
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.528G>A
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.466G>A
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val170Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-146731506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731506
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.468T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.510T>G
  hgvsp: ENST00000369258.4:c.510T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.510T>G
  hgvsp: ENST00000431239.1:c.510T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6085T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-171T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6085T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.530T>G
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21834
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val170Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-146731514-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146731514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 146731514
    reference: chr 1
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000492728
  gene symbol: CHD1L
  hgvsc: ENST00000492728.1:n.476T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000355100
  ensembl transcript: ENST00000361293
  gene symbol: CHD1L
  hgvsc: ENST00000361293.5:c.-163T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358263
  ensembl transcript: ENST00000369259
  gene symbol: CHD1L
  hgvsc: ENST00000369259.3:c.128-6077T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000389031
  ensembl transcript: ENST00000431239
  gene symbol: CHD1L
  hgvsc: ENST00000431239.1:c.518T>G
  hgvsp: ENSP00000389031.1:p.Val173Gly
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000488864
  gene symbol: CHD1L
  hgvsc: ENST00000488864.1:n.148-6077T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131778
  ensembl transcript: ENST00000467213
  gene symbol: CHD1L
  hgvsc: ENST00000467213.1:n.538T>G
  variant of: http://identifiers.org/hgnc/1916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131778
  ensembl protein: ENSP00000358262
  ensembl transcript: ENST00000369258
  gene symbol: CHD1L
  hgvsc: ENST00000369258.4:c.518T>G
  hgvsp: ENSP00000358262.4:p.Val173Gly
  variant of: http://identifiers.org/hgnc/1916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val173Gly
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.600978e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.257039169065198e-5
allele num: 15982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.602182e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.041e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 2.239e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

GenotypeQuality
all individuals: 4590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46836
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

DP
type: SiteQuality
SIO_000300: 1.605646e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 4.25e1
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GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.633920296570899e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.218905472636816e-5
allele num: 16080
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.532543663503958e-5
allele num: 66188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.605991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 46532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 2.667e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.602913e6

GenotypeQuality
all individuals: 3990
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
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variant carriers: 0

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

GenotypeQuality
all individuals: 609
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variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.750700280112045e-4
allele num: 11424
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 1.602037e6

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3989
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 1083
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030119386703836e-5
allele num: 66004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 3.789e0

QD
type: SiteQuality
SIO_000300: 6.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.601542e6

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 46282
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65950
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.60009e6

FS
type: SiteQuality
SIO_000300: 8.444000000000001e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.353e0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45777
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.59705e6

MQRankSum
type: SiteQuality
SIO_000300: -1.749e0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 6.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.153e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
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GenotypeQuality
all individuals: 1065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521931026085898e-5
allele num: 65706
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

VQSLOD
type: SiteQuality
SIO_000300: -2.683e0

QD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.465e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.267e0

DP
type: SiteQuality
SIO_000300: 1.595094e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

GenotypeQuality
all individuals: 4196
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4037
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 40873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
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variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.94006309148265e-4
allele num: 63400
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 15
allele frequency: 9.62278675904542e-4
allele num: 15588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.032e0

DP
type: SiteQuality
SIO_000300: 1.541802e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.12e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
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GenotypeQuality
all individuals: 392
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 39711
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 958
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GenotypeQuality
all individuals: 5440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.301707779886148e-4
allele num: 8432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.438320885912955e-5
allele num: 15532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.048136083966703e-5
allele num: 11052
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 3.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.531537e6

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 36390
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GenotypeQuality
all individuals: 913
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variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 9.75e1
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GenotypeQuality
all individuals: 266
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15336
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630310737226516e-5
allele num: 61338
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 2.047e0

DP
type: SiteQuality
SIO_000300: 1.489799e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 3.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10678
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.586747464102226e-5
allele num: 15182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.455998e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 3197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1107
bin: 5.25e1
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GenotypeQuality
all individuals: 3974
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715089356155456e-5
allele num: 58306
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.4e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.413474e6

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
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GenotypeQuality
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GenotypeQuality
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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: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.761059453367146e-5
allele num: 56784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.373097e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 8.48e0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 2146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 385
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GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
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GenotypeQuality
all individuals: 2256
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variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.786102062975027e-5
allele num: 14736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.355435e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 6.03e0

QD
type: SiteQuality
SIO_000300: 1.037e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 1971
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variant carriers: 0

GenotypeQuality
all individuals: 1697
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variant carriers: 0

GenotypeQuality
all individuals: 20097
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variant carriers: 0

GenotypeQuality
all individuals: 14490
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variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
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variant carriers: 0

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

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.943861286058627e-5
allele num: 51444
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.229068e6

QD
type: SiteQuality
SIO_000300: 1.035e1

GenotypeQuality
all individuals: 19640
bin: 2.25e1
variant carriers: 74

GenotypeQuality
all individuals: 409
bin: 7.25e1
variant carriers: 129

GenotypeQuality
all individuals: 11035
bin: 6.25e1
variant carriers: 222

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 115

GenotypeQuality
all individuals: 1030
bin: 7.5e0
variant carriers: 38

GenotypeQuality
all individuals: 532
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variant carriers: 201

GenotypeQuality
all individuals: 422
bin: 4.75e1
variant carriers: 192

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 155

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 197

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 146

Latino
type: Population
allele count: 2740
allele frequency: 3.09185285488603e-1
allele num: 8862
num of homozygotes: 326

South Asian
type: Population
allele count: 3627
allele frequency: 2.591454701343241e-1
allele num: 13996
num of homozygotes: 447

African
type: Population
allele count: 2593
allele frequency: 2.827699018538713e-1
allele num: 9170
num of homozygotes: 350

European (Finnish)
type: Population
allele count: 759
allele frequency: 1.351977199857499e-1
allele num: 5614
num of homozygotes: 46

European (Non-Finnish)
type: Population
allele count: 5066
allele frequency: 1.009002549394519e-1
allele num: 50208
num of homozygotes: 208

East Asian
type: Population
allele count: 3360
allele frequency: 4.578904333605887e-1
allele num: 7338
num of homozygotes: 698

Other
type: Population
allele count: 141
allele frequency: 1.8359375e-1
allele num: 768
num of homozygotes: 14

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.95e-2

DP
type: SiteQuality
SIO_000300: 1.242898e6

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 1.663e1

GenotypeQuality
all individuals: 2630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 307
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variant carriers: 0

GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.222493887530562e-4
allele num: 8180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 1.013654e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.418e0

FS
type: SiteQuality
SIO_000300: 3.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

GenotypeQuality
all individuals: 8531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 1140
bin: 6.75e1
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 460
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GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.188666885031116e-5
allele num: 12212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.74653e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 3.358e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 5.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 28745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
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GenotypeQuality
all individuals: 3146
bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.332198330145996e-5
allele num: 42878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.152e1

DP
type: SiteQuality
SIO_000300: 9.67002e5

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 2356
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
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GenotypeQuality
all individuals: 3143
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 629
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4815
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.593899149201079e-5
allele num: 38552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.338e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.85907e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21386
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

DP
type: SiteQuality
SIO_000300: 8.53961e5

FS
type: SiteQuality
SIO_000300: 2.624e0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

QD
type: SiteQuality
SIO_000300: 1.047e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1077
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16453
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 561
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5086
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1387
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.128435903673072e-4
allele num: 32888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.5e-4
allele num: 4000
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.476668635558181e-4
allele num: 6772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.658103148541626e-4
allele num: 10354
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.845018450184502e-3
allele num: 542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.42621e5

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 2.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

QD
type: SiteQuality
SIO_000300: 1.517e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 922
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.144491e6

MQ
type: SiteQuality
SIO_000300: 6.022e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.697e1

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1378
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.69895369964288e-5
allele num: 63844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.542e0

FS
type: SiteQuality
SIO_000300: 3.562e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.754e1

MQ
type: SiteQuality
SIO_000300: 5.474e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

VQSLOD
type: SiteQuality
SIO_000300: -8.007e-1

DP
type: SiteQuality
SIO_000300: 3.26603e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 113

GenotypeQuality
all individuals: 3320
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 6300
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 100

GenotypeQuality
all individuals: 1373
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 796
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 27454
bin: 9.75e1
variant carriers: 25858

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 64

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 52

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 35

African
type: Population
allele count: 1662
allele frequency: 1.738493723849373e-1
allele num: 9560
num of homozygotes: 144

European (Finnish)
type: Population
allele count: 1723
allele frequency: 2.768316195372751e-1
allele num: 6224
num of homozygotes: 257

East Asian
type: Population
allele count: 1124
allele frequency: 1.547782979895346e-1
allele num: 7262
num of homozygotes: 68

Other
type: Population
allele count: 231
allele frequency: 2.938931297709924e-1
allele num: 786
num of homozygotes: 27

European (Non-Finnish)
type: Population
allele count: 18661
allele frequency: 3.149216956932631e-1
allele num: 59256
num of homozygotes: 2588

Latino
type: Population
allele count: 3092
allele frequency: 3.048107255520505e-1
allele num: 10144
num of homozygotes: 417

South Asian
type: Population
allele count: 4307
allele frequency: 3.480685307903669e-1
allele num: 12374
num of homozygotes: 600

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 3.65224e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 8.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
all individuals: 5889
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4862
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.158273381294964e-3
allele num: 1390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12322
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.879477e6

FS
type: SiteQuality
SIO_000300: 6.052e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 6.369426751592357e-3
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.975503753457131e-4
allele num: 5062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 920
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.488095238095238e-3
allele num: 1344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.813e1

QD
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.119e0

DP
type: SiteQuality
SIO_000300: 3.976101e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

East Asian
type: Population
allele count: 30
allele frequency: 9.202453987730061e-2
allele num: 326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.993475e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 3.834e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.95e-2

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.135839384878257e-4
allele num: 4682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 3.994126e6

FS
type: SiteQuality
SIO_000300: 1.681e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

QD
type: SiteQuality
SIO_000300: 1.536e1

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.104377104377104e-4
allele num: 4752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -2.293e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.59e-2

DP
type: SiteQuality
SIO_000300: 3.995842e6

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.06782464846981e-4
allele num: 4836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQ
type: SiteQuality
SIO_000300: 6.441e1

VQSLOD
type: SiteQuality
SIO_000300: -8.36e-1

FS
type: SiteQuality
SIO_000300: 9.295999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

DP
type: SiteQuality
SIO_000300: 3.998635e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.203473945409429e-4
allele num: 4836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 8.250825082508251e-4
allele num: 1212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e0

FS
type: SiteQuality
SIO_000300: 9.295999999999999e0

DP
type: SiteQuality
SIO_000300: 3.998635e6

VQSLOD
type: SiteQuality
SIO_000300: -8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57846
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000600060006001e-5
allele num: 66660
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 3.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 4.446367e6

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 1.349e0

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

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 6.75e1
variant carriers: 227

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 68

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 26

GenotypeQuality
all individuals: 57846
bin: 9.75e1
variant carriers: 57802

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 78

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 15

GenotypeQuality
all individuals: 187
bin: 7.25e1
variant carriers: 185

European (Finnish)
type: Population
allele count: 6326
allele frequency: 9.56745311554749e-1
allele num: 6612
num of homozygotes: 3025

European (Non-Finnish)
type: Population
allele count: 64307
allele frequency: 9.647014701470147e-1
allele num: 66660
num of homozygotes: 31013

African
type: Population
allele count: 9793
allele frequency: 9.418157337949605e-1
allele num: 10398
num of homozygotes: 4611

Latino
type: Population
allele count: 11409
allele frequency: 9.864257305896593e-1
allele num: 11566
num of homozygotes: 5630

Other
type: Population
allele count: 869
allele frequency: 9.570484581497798e-1
allele num: 908
num of homozygotes: 417

South Asian
type: Population
allele count: 16026
allele frequency: 9.710373242850218e-1
allele num: 16504
num of homozygotes: 7786

East Asian
type: Population
allele count: 8519
allele frequency: 9.844002773284031e-1
allele num: 8654
num of homozygotes: 4192

QD
type: SiteQuality
SIO_000300: 3.147e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 1.349e0

MQ
type: SiteQuality
SIO_000300: 6.055e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 4.446367e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeQuality
all individuals: 6118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37593
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 3.520454e6

FS
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

MQ
type: SiteQuality
SIO_000300: 6.001e1

GenotypeQuality
all individuals: 1727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37583
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.943e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 3.519937e6

QD
type: SiteQuality
SIO_000300: 6.51e0

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

GenotypeQuality
all individuals: 2945
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 2.000970167353869e-3
allele num: 16492
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800666246511209e-4
allele num: 66642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 3.138e0

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

DP
type: SiteQuality
SIO_000300: 3.519779e6

QD
type: SiteQuality
SIO_000300: 1.11e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000420029402058e-5
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 1.164e0

DP
type: SiteQuality
SIO_000300: 3.519925e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

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

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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SIO_000300: -5.9e-1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.118e1

FS
type: SiteQuality
SIO_000300: 1.164e0

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 6.033e1

ClippingRankSum
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SIO_000300: -6.3e-2

QD
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SIO_000300: 1.129e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.714e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 3.519081e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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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
allele num: 906
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -3.781e0

ReadPosRankSum
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SIO_000300: 7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

DP
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SIO_000300: 3.519015e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
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allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11558
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

MQ
type: SiteQuality
SIO_000300: 6.012e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16464
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.501530520376928e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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South Asian
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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allele num: 66644
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East Asian
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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European (Non-Finnish)
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allele num: 66636
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Latino
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Other
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African
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.275e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

MQRankSum
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SIO_000300: 1.45e0

QD
type: SiteQuality
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VQSLOD
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SIO_000300: 1.4e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 3.50783e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

South Asian
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allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.476e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: -4.327e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.025e1

DP
type: SiteQuality
SIO_000300: 3.497954e6

FS
type: SiteQuality
SIO_000300: 1.4178e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.220107369448512e-4
allele num: 16392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.492673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.16e0

FS
type: SiteQuality
SIO_000300: 4.834e0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.484355e6

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.019e0

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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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.042e1

VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 195

GenotypeQuality
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variant carriers: 0

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

East Asian
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European (Non-Finnish)
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allele frequency: 2.461132120775557e-3
allele num: 66636
num of homozygotes: 1

African
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European (Finnish)
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allele frequency: 2.11672210462655e-3
allele num: 6614
num of homozygotes: 1

Latino
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South Asian
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allele frequency: 1.093958915765163e-3
allele num: 16454
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.976e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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African
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allele frequency: 9.619084263178146e-5
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East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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SIO_000300: 1.0e-3

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2706
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.053e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

DP
type: SiteQuality
SIO_000300: 2.808439e6

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: -7.08e-2

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3265
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.066e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.717e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 2.812028e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

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

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

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

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 8.79e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: -1.357e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 2.813161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.765e0

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2807
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 35
allele frequency: 3.371219418223849e-3
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

DP
type: SiteQuality
SIO_000300: 2.817188e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 21589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15690
bin: 9.75e1
variant carriers: 540

GenotypeQuality
all individuals: 3997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 525
allele frequency: 5.047106325706595e-2
allele num: 10402
num of homozygotes: 11

Latino
type: Population
allele count: 12
allele frequency: 1.036448436690275e-3
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349365798074905e-4
allele num: 66698
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.009e1

QD
type: SiteQuality
SIO_000300: 1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 2.862314e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

GenotypeQuality
all individuals: 3253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 21597
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.066780456582035e-4
allele num: 9374
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 2.866319e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 15327
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9195
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: -2.755e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 2.753715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeQuality
all individuals: 15324
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.339e0

VQSLOD
type: SiteQuality
SIO_000300: -2.899e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -1.308e0

DP
type: SiteQuality
SIO_000300: 2.753993e6

GenotypeQuality
all individuals: 1472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15324
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.75385e6

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.894e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 1.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1472
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4029
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.836e0

QD
type: SiteQuality
SIO_000300: 1.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 2.753828e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0