http://identifiers.org/exac.variant/4-41749713-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41749713
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41749713
    reference: chr 4
allele count: 9
allele frequency: 6.920947400799754e-4
allele num: 13004
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.242-160T>G
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000426733
  ensembl transcript: ENST00000510424
  gene symbol: PHOX2B
  hgvsc: ENST00000510424.1:c.12T>G
  hgvsp: ENSP00000426733.1:p.Phe5Val
  variant of: http://identifiers.org/hgnc/9143
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe5Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 122
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

4-41749715-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41749715
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41749712
    reference: chr 4
allele count: 3
allele frequency: 2.358490566037736e-4
allele num: 12720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.242-165_242-163delCAA
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000426733
  ensembl transcript: ENST00000510424
  gene symbol: PHOX2B
  hgvsc: ENST00000510424.1:c.7_9delCAA
  hgvsp: ENSP00000426733.1:p.Thr3del
  variant of: http://identifiers.org/hgnc/9143
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 33089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr3del
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 124
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: TTTG
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

4-41749726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41749726
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41749726
    reference: chr 4
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.242-173G>A
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 3.472222222222222e-3
  allele num: 288
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 28
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 160
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-41749736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41749736
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41749736
    reference: chr 4
allele count: 1
allele frequency: 8.909479686386316e-5
allele num: 11224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.242-183C>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 511
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 118
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2994
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-41750338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750338
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750338
    reference: chr 4
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+49A>G
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.29T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9834
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-41750344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750344
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750344
    reference: chr 4
allele count: 3
allele frequency: 2.495175993080045e-5
allele num: 120232
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.35C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+43G>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

4-41750346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750346
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750346
    reference: chr 4
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+41C>T
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.37G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-41750349-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750349
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750349
    reference: chr 4
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+38T>A
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.40A>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

4-41750354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750354
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750354
    reference: chr 4
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.45G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+33C>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

4-41750357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750357
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750357
    reference: chr 4
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.48T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+30A>G
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9896
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-41750360-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750360
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750359
    reference: chr 4
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+26delG
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.53delC
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: TC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

4-41750361-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750361
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750361
    reference: chr 4
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.52C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+26G>C
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1643
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genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-41750365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750365
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750365
    reference: chr 4
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.56T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+22A>G
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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genotype depth: GenotypeDepth
  all individuals: 629
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36681
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

4-41750372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750372
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750372
    reference: chr 4
allele count: 2
allele frequency: 1.659503144758459e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+15C>T
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.63G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-41750381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750381
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750381
    reference: chr 4
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.241+6G>A
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.72C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 37092
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
hgvs: c.241+6G>A
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

4-41750394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750394
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750394
    reference: chr 4
allele count: 114
allele frequency: 9.440368339985757e-4
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.234C>T
  hgvsp: ENST00000226382.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.85G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29234
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 500
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genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr78Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 2
  allele frequency: 2.222222222222222e-3
  allele num: 900
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-41750397-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750397
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750397
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.231G>T
  hgvsp: ENST00000226382.2:c.231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.88C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro77Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6586
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-41750397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750397
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750397
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.88C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.231G>A
  hgvsp: ENST00000226382.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro77Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-41750401-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750401
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750401
    reference: chr 4
allele count: 3
allele frequency: 2.482416218452627e-5
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.227G>C
  hgvsp: ENSP00000226382.2:p.Ser76Thr
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.92C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 2543
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genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 37382
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9176
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser76Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6588
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-41750415-C-CACTTGAGTTAGGAGGCATTTTTTTGGGGGGCGGGAGGGGAGAAGGAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750415
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750465
    reference: chr 4
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: CACTTGAGTTAGGAGGCATTTTTTTGGGGGGCGGGAGGGGAGAAGGAAAAA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsp: ENSP00000226382.2:p.Arg71SerfsTer15
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29336
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 644
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg71SerfsTer15
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.504845602841149e-5
  allele num: 66452
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-41750442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750442
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750442
    reference: chr 4
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.186G>A
  hgvsp: ENST00000226382.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.133C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29432
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
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genotype depth: GenotypeDepth
  all individuals: 1483
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genotype quality: GenotypeQuality
  all individuals: 9090
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
  all individuals: 360
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  all individuals: 191
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 119
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 144
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genotype quality: GenotypeQuality
  all individuals: 1578
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  variant carriers: 0
hgvs: p.Pro62Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

4-41750456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750456
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750456
    reference: chr 4
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.172C>T
  hgvsp: ENSP00000226382.2:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.147G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 29495
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9071
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro58Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

4-41750463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750463
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750463
    reference: chr 4
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.165C>T
  hgvsp: ENST00000226382.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.154G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37603
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser55Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6580
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

4-41750482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750482
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750482
    reference: chr 4
allele count: 2
allele frequency: 1.652783287055401e-5
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.173G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.146C>A
  hgvsp: ENSP00000226382.2:p.Thr49Asn
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2822
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr49Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16474
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

4-41750502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750502
    reference: chr 4
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.126C>T
  hgvsp: ENST00000226382.2:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.193G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe42Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6536
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

4-41750508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750508
    reference: chr 4
allele count: 12
allele frequency: 9.931472837421789e-5
allele num: 120828
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.199A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.120T>C
  hgvsp: ENST00000226382.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser40Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 12
  allele frequency: 7.297494526879105e-4
  allele num: 16444
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-41750514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750514
    reference: chr 4
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.205C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.114G>A
  hgvsp: ENST00000226382.2:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 37039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln38Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8634
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-41750517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750517
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750517
    reference: chr 4
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.208G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.111C>T
  hgvsp: ENST00000226382.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15933
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 573
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8012
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser37Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6546
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

4-41750523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750523
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750523
    reference: chr 4
allele count: 3
allele frequency: 2.487685954525101e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.214G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.105C>T
  hgvsp: ENST00000226382.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser35Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

4-41750529-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750529
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750529
    reference: chr 4
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.220G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.99C>G
  hgvsp: ENSP00000226382.2:p.Phe33Leu
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27457
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37603
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe33Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10280
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

4-41750550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750550
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750550
    reference: chr 4
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.78G>A
  hgvsp: ENST00000226382.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.241C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu26Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8606
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

4-41750558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750558
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750558
    reference: chr 4
allele count: 24
allele frequency: 2.001868410516482e-4
allele num: 119888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.70T>C
  hgvsp: ENSP00000226382.2:p.Ser24Pro
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.249A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18568
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser24Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10188
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

4-41750567-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750567
    reference: chr 4
allele count: 1
allele frequency: 8.370162046337218e-6
allele num: 119472
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.61A>C
  hgvsp: ENSP00000226382.2:p.Met21Leu
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.258T>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met21Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11410
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

4-41750571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750571
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750571
    reference: chr 4
allele count: 2
allele frequency: 1.669532697797886e-5
allele num: 119794
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.57T>C
  hgvsp: ENST00000226382.2:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.262A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3525
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala19Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-41750583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750583
    reference: chr 4
allele count: 1
allele frequency: 8.371423309391063e-6
allele num: 119454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.45G>A
  hgvsp: ENST00000226382.2:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.274C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 601
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu15Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6486
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

4-41750586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750586
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750586
    reference: chr 4
allele count: 1
allele frequency: 8.380684199058012e-6
allele num: 119322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.277G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.42C>T
  hgvsp: ENST00000226382.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1971
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1811
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  variant carriers: 0
hgvs: p.Tyr14Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10044
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

4-41750589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750589
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750589
    reference: chr 4
allele count: 2
allele frequency: 1.677627164139042e-5
allele num: 119216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.280G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.39C>T
  hgvsp: ENST00000226382.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala13Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.191950464396285e-5
  allele num: 16150
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-41750589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750589
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750589
    reference: chr 4
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.280G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.39C>A
  hgvsp: ENST00000226382.2:c.39C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1390
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala13Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.521236460995497e-5
  allele num: 65736
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

4-41750595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750595
    reference: chr 4
allele count: 2
allele frequency: 1.683161650844947e-5
allele num: 118824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.33C>T
  hgvsp: ENST00000226382.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.286G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser11Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.525646111128063e-5
  allele num: 65546
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

4-41750634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750634
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750634
    reference: chr 4
allele count: 3
allele frequency: 2.61114786059952e-5
allele num: 114892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+31G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 463
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genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.156067539845353e-5
  allele num: 63370
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-41750634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750634
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750634
    reference: chr 4
allele count: 5
allele frequency: 4.351913100999199e-5
allele num: 114892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+31G>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-7C>A
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

4-41750644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750644
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750644
    reference: chr 4
allele count: 1
allele frequency: 8.777319406653208e-6
allele num: 113930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+41G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 301
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15544
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

4-41750652-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750652
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750652
    reference: chr 4
allele count: 1
allele frequency: 8.852691218130311e-6
allele num: 112960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-25G>C
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+49C>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9142
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

4-41750655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750655
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750655
    reference: chr 4
allele count: 3
allele frequency: 2.665292560280033e-5
allele num: 112558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+52G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8180
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-41750664-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750664
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750664
    reference: chr 4
allele count: 3
allele frequency: 2.695127210004312e-5
allele num: 111312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-37A>T
  variant of: http://identifiers.org/hgnc/9143
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+61T>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11675
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1866
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6048
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

4-41750665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41750665
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41750665
    reference: chr 4
allele count: 3
allele frequency: 2.706604114038253e-5
allele num: 110840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250467
  ensembl transcript: ENST00000508038
  gene symbol: RP11-227F19.1
  hgvsc: ENST00000508038.1:n.294+62G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109132
  ensembl protein: ENSP00000226382
  ensembl transcript: ENST00000226382
  gene symbol: PHOX2B
  hgvsc: ENST00000226382.2:c.-38C>T
  variant of: http://identifiers.org/hgnc/9143
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15035
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6028
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-41937451-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937451
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937451
    reference: chr 4
allele count: 1
allele frequency: 2.013206635529071e-5
allele num: 49672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.51C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-33C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-51C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-51C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-51C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-33C>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25812
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 680
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3793
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

4-41937453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937453
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937453
    reference: chr 4
allele count: 1
allele frequency: 2.003526206122776e-5
allele num: 49912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-49T>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-49T>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-49T>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.53T>C
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

4-41937458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937458
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937458
    reference: chr 4
allele count: 1068
allele frequency: 2.117283216367313e-2
allele num: 50442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-44C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-26C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.58C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-44C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-26C>T
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 26003
  bin: 7.5e0
  variant carriers: 530
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 1.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 1.25e1
  variant carriers: 500
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 9.75e1
  variant carriers: 1127
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 1.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 20330
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 6.75e1
  variant carriers: 32
num of homozygotes: 10
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

4-41937462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937462
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937462
    reference: chr 4
allele count: 1
allele frequency: 1.964559349337943e-5
allele num: 50902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-22C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-40C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.62C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-40C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-22C>T
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-41937465-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937465
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937465
    reference: chr 4
allele count: 1
allele frequency: 1.95289614498301e-5
allele num: 51206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-37C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-19C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-37C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-37C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.65C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-19C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-37C>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-41937467-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937467
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937467
    reference: chr 4
allele count: 1
allele frequency: 1.937233630375823e-5
allele num: 51620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-17C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-17C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-35C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.67C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-35C>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 7.5e0
  variant carriers: 0
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: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-41937476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937476
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937476
    reference: chr 4
allele count: 6
allele frequency: 1.106072337130848e-4
allele num: 54246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-26C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-26C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-18-8C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-18-8C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.76C>T
  variant of: http://identifiers.org/hgnc/25541
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
hgvs: c.-18-8C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-41937490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937490
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937490
    reference: chr 4
allele count: 1
allele frequency: 1.644250057548752e-5
allele num: 60818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.90G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-41937500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937500
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937500
    reference: chr 4
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.100C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

4-41937502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937502
    reference: chr 4
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.1A>G
  hgvsp: ENSP00000422810.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.1A>G
  hgvsp: ENSP00000422517.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.1A>G
  hgvsp: ENSP00000441455.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.1A>G
  hgvsp: ENSP00000427006.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.102A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.1A>G
  hgvsp: ENSP00000264452.5:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.1A>G
  hgvsp: ENSP00000422473.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

4-41937510-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937510
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937510
    reference: chr 4
allele count: 1
allele frequency: 1.466404669032466e-5
allele num: 68194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.9T>G
  hgvsp: ENSP00000427006.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.9T>G
  hgvsp: ENSP00000422810.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.9T>G
  hgvsp: ENSP00000422473.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.9T>G
  hgvsp: ENSP00000422517.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.9T>G
  hgvsp: ENSP00000441455.1:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.9T>G
  hgvsp: ENSP00000264452.5:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.110T>G
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp3Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

4-41937516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937516
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937516
    reference: chr 4
allele count: 44
allele frequency: 6.440469568781287e-4
allele num: 68318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.15C>T
  hgvsp: ENST00000325094.5:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.15C>T
  hgvsp: ENST00000506794.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.116C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.15C>T
  hgvsp: ENST00000264452.5:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.15C>T
  hgvsp: ENST00000513702.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.15C>T
  hgvsp: ENST00000508448.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.15C>T
  hgvsp: ENST00000504986.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24240
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Thr5Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-41937519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937519
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937519
    reference: chr 4
allele count: 1
allele frequency: 1.45032632342277e-5
allele num: 68950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.18G>A
  hgvsp: ENST00000325094.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.119G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.18G>A
  hgvsp: ENST00000264452.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.18G>A
  hgvsp: ENST00000513702.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.18G>A
  hgvsp: ENST00000508448.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.18G>A
  hgvsp: ENST00000506794.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.18G>A
  hgvsp: ENST00000504986.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-41937519-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937519
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937519
    reference: chr 4
allele count: 1
allele frequency: 1.45032632342277e-5
allele num: 68950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.18G>C
  hgvsp: ENST00000504986.1:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.119G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.18G>C
  hgvsp: ENST00000508448.1:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.18G>C
  hgvsp: ENST00000264452.5:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.18G>C
  hgvsp: ENST00000513702.1:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.18G>C
  hgvsp: ENST00000506794.1:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.18G>C
  hgvsp: ENST00000325094.5:c.18G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-41937529-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937529
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937529
    reference: chr 4
allele count: 2
allele frequency: 2.927657581169306e-5
allele num: 68314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.28C>A
  hgvsp: ENSP00000441455.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.28C>A
  hgvsp: ENSP00000422810.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.28C>A
  hgvsp: ENSP00000422473.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.28C>A
  hgvsp: ENSP00000264452.5:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.28C>A
  hgvsp: ENSP00000427006.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.28C>A
  hgvsp: ENSP00000422517.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.129C>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln10Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

4-41937531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937531
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937531
    reference: chr 4
allele count: 1
allele frequency: 1.473709030888941e-5
allele num: 67856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.30A>T
  hgvsp: ENSP00000422810.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.131A>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.30A>T
  hgvsp: ENSP00000264452.5:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.30A>T
  hgvsp: ENSP00000422473.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.30A>T
  hgvsp: ENSP00000441455.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.30A>T
  hgvsp: ENSP00000427006.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.30A>T
  hgvsp: ENSP00000422517.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13008
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln10His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-41937536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937536
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937536
    reference: chr 4
allele count: 9
allele frequency: 1.342602261538921e-4
allele num: 67034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.35C>T
  hgvsp: ENSP00000422473.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.35C>T
  hgvsp: ENSP00000441455.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.35C>T
  hgvsp: ENSP00000422810.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.35C>T
  hgvsp: ENSP00000427006.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.35C>T
  hgvsp: ENSP00000422517.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.136C>T
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.35C>T
  hgvsp: ENSP00000264452.5:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala12Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-41937541-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937541
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937541
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 65916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.40G>T
  hgvsp: ENSP00000422517.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.40G>T
  hgvsp: ENSP00000422810.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.40G>T
  hgvsp: ENSP00000264452.5:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.40G>T
  hgvsp: ENSP00000422473.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.40G>T
  hgvsp: ENSP00000427006.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.40G>T
  hgvsp: ENSP00000441455.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.141G>T
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24303
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala14Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

4-41937547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937547
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937547
    reference: chr 4
allele count: 1
allele frequency: 1.545833977430824e-5
allele num: 64690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+1G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31415
  bin: 2.25e1
  variant carriers: 0
hgvs: c.45+1G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-41937549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937549
    reference: chr 4
allele count: 3
allele frequency: 4.642381851381882e-5
allele num: 64622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+3A>G
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
hgvs: c.45+3A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-41937564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937564
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937564
    reference: chr 4
allele count: 1
allele frequency: 1.647012319652151e-5
allele num: 60716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+18G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-41937571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937571
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937571
    reference: chr 4
allele count: 2
allele frequency: 3.465243606625546e-5
allele num: 57716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+25G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

4-41937576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937576
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937576
    reference: chr 4
allele count: 1
allele frequency: 1.791280048722817e-5
allele num: 55826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+30G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23198
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-41937577-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937577
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937577
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 56010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+31A>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+31A>C
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS

4-41937577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937577
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937577
    reference: chr 4
allele count: 1
allele frequency: 1.785395465095519e-5
allele num: 56010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+31A>G
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-41937581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937581
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937581
    reference: chr 4
allele count: 1
allele frequency: 1.863238308179616e-5
allele num: 53670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+35G>C
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+35G>C
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10749
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

4-41937597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41937597
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41937597
    reference: chr 4
allele count: 19
allele frequency: 4.170874127409229e-4
allele num: 45554
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.146+51A>G
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.45+51A>G
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11347
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26505
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

4-41940576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41940576
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41940576
    reference: chr 4
allele count: 14024
allele frequency: 1.160101252419635e-1
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.147-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.46-43G>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 4.75e1
  variant carriers: 1405
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.75e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.25e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 3.75e1
  variant carriers: 1872
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 4.25e1
  variant carriers: 1743
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 1036
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 968
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.75e1
  variant carriers: 1206
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 1718
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 8.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 11
num of homozygotes: 1039
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-41940578-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41940578
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 41940578
    reference: chr 4
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422517
  ensembl transcript: ENST00000506794
  gene symbol: TMEM33
  hgvsc: ENST00000506794.1:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000441455
  ensembl transcript: ENST00000325094
  gene symbol: TMEM33
  hgvsc: ENST00000325094.5:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422810
  ensembl transcript: ENST00000508448
  gene symbol: TMEM33
  hgvsc: ENST00000508448.1:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl transcript: ENST00000510383
  gene symbol: TMEM33
  hgvsc: ENST00000510383.1:n.147-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000422473
  ensembl transcript: ENST00000504986
  gene symbol: TMEM33
  hgvsc: ENST00000504986.1:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000427006
  ensembl transcript: ENST00000513702
  gene symbol: TMEM33
  hgvsc: ENST00000513702.1:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109133
  ensembl protein: ENSP00000264452
  ensembl transcript: ENST00000264452
  gene symbol: TMEM33
  hgvsc: ENST00000264452.5:c.46-41T>A
  variant of: http://identifiers.org/hgnc/25541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
reference allele: T

South Asian
type: Population
allele count: 9
allele frequency: 1.168831168831169e-3
allele num: 7700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.48894e5

FS
type: SiteQuality
SIO_000300: 1.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.09e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

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

South Asian
type: Population
allele count: 3
allele frequency: 3.907267517582704e-4
allele num: 7678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.41683e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.731e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.712e0

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 1.2197e1

MQ
type: SiteQuality
SIO_000300: 5.74e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.48e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 2.635e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.93e-2

QD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 5.849e1

DP
type: SiteQuality
SIO_000300: 4.07361e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.89499e5

VQSLOD
type: SiteQuality
SIO_000300: -1.489e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

QD
type: SiteQuality
SIO_000300: 1.085e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

FS
type: SiteQuality
SIO_000300: 1.039e0

DP
type: SiteQuality
SIO_000300: 1.687154e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.626e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531995890990392e-5
allele num: 66196
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: 9844
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.688265e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 2.6693e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 9.01e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.689275e6

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018959062915107e-5
allele num: 66248
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -4.468e-1

DP
type: SiteQuality
SIO_000300: 1.690011e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

FS
type: SiteQuality
SIO_000300: 4.695e0

QD
type: SiteQuality
SIO_000300: 1.492e1

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 9888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.691948e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.138e0

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.568e1

VQSLOD
type: SiteQuality
SIO_000300: -2.558e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.654e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.69288e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
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: 8636
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: 9910
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e0

DP
type: SiteQuality
SIO_000300: 1.694041e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.694311e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: -1.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.977e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 7.516e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e0

DP
type: SiteQuality
SIO_000300: 1.695583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.697928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.273e1

FS
type: SiteQuality
SIO_000300: 9.631e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 3.989e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.066e0

DP
type: SiteQuality
SIO_000300: 1.699632e6

QD
type: SiteQuality
SIO_000300: 1.131e1

Latino
type: Population
allele count: 7
allele frequency: 6.050129645635263e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011957471160507e-5
allele num: 66402
num of homozygotes: 0

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

African
type: Population
allele count: 103
allele frequency: 1.014978320851399e-2
allele num: 10148
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

DP
type: SiteQuality
SIO_000300: 1.702985e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.201e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 1.700263e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 5.201e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.700263e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.700543e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 16506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.829e0

MQRankSum
type: SiteQuality
SIO_000300: -5.035e0

MQ
type: SiteQuality
SIO_000300: 5.596e1

FS
type: SiteQuality
SIO_000300: 2.9323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 1.700755e6

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.107e-1

FS
type: SiteQuality
SIO_000300: 2.014e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.702096e6

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
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: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.700329e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.995e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.982e0

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 3.294e0

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.577e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.698888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 4.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 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: 2
allele frequency: 3.007066606525334e-5
allele num: 66510
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: 11542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

DP
type: SiteQuality
SIO_000300: 1.694301e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.087e1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

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: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.681149e6

VQSLOD
type: SiteQuality
SIO_000300: -4.057e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

FS
type: SiteQuality
SIO_000300: 3.283e0

QD
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.675686e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.665862e6

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 1.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

DP
type: SiteQuality
SIO_000300: 1.662031e6

FS
type: SiteQuality
SIO_000300: 4.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523113107981787e-5
allele num: 66326
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Latino
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allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
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QD
type: SiteQuality
SIO_000300: 9.68e0

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.654984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 5.147e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
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South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
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Other
type: Population
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allele num: 898
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QD
type: SiteQuality
SIO_000300: 1.05e1

DP
type: SiteQuality
SIO_000300: 1.650102e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
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MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 4.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.619489e6

FS
type: SiteQuality
SIO_000300: 1.3403e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.403e0

South Asian
type: Population
allele count: 22
allele frequency: 1.351849576010815e-3
allele num: 16274
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Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 1.609581e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.272e1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10108
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 2.9579e1

VQSLOD
type: SiteQuality
SIO_000300: -5.049e0

QD
type: SiteQuality
SIO_000300: 3.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.6045e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.042e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16238
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029935765361774e-5
allele num: 66008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
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FS
type: SiteQuality
SIO_000300: 3.085e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.238e-1

DP
type: SiteQuality
SIO_000300: 1.608863e6

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.568e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
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MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.967e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

DP
type: SiteQuality
SIO_000300: 1.600934e6

FS
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519618271890101e-5
allele num: 65806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
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South Asian
type: Population
allele count: 0
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allele num: 16162
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MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 7.497e0

VQSLOD
type: SiteQuality
SIO_000300: -6.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.597439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 9.91e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521236460995497e-5
allele num: 65736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.4249e1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 1.59473e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -1.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4249e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.59473e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: -1.876e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.002606777621817e-4
allele num: 9974
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.15e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.583458e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.446298e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 2.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.816860465116279e-4
allele num: 11008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.27942681678608e-4
allele num: 15632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578033769922677e-5
allele num: 63370
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 2.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.446298e6

African
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62834
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

FS
type: SiteQuality
SIO_000300: 6.239e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

DP
type: SiteQuality
SIO_000300: 1.386258e6

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.474168069403081e-5
allele num: 15446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 1.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.605e0

DP
type: SiteQuality
SIO_000300: 1.308462e6

QD
type: SiteQuality
SIO_000300: 2.766e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62132
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.308337009263344e-4
allele num: 9068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.271996e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.879159483459649e-5
allele num: 61486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.210815e6

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.901480247034604e-5
allele num: 61206
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.19852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 6.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeQuality
all individuals: 1255
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 2.9708853238265e-4
allele num: 3366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 1.165e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

DP
type: SiteQuality
SIO_000300: 7.71948e5

QD
type: SiteQuality
SIO_000300: 8.26e0

GenotypeQuality
all individuals: 6228
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8519
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 849
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26704
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.905287623474724e-4
allele num: 3442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.74122e5

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

FS
type: SiteQuality
SIO_000300: 3.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.568e0

GenotypeQuality
all individuals: 6360
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 2707
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 930
bin: 4.75e1
variant carriers: 17

GenotypeQuality
all individuals: 3157
bin: 6.25e1
variant carriers: 42

GenotypeQuality
all individuals: 963
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 65

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 65

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 15

Latino
type: Population
allele count: 83
allele frequency: 2.848318462594372e-2
allele num: 2914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 514
allele frequency: 1.900887573964497e-2
allele num: 27040
num of homozygotes: 2

African
type: Population
allele count: 112
allele frequency: 2.348993288590604e-2
allele num: 4768
num of homozygotes: 3

East Asian
type: Population
allele count: 29
allele frequency: 8.444962143273151e-3
allele num: 3434
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 2.295918367346939e-2
allele num: 392
num of homozygotes: 0

South Asian
type: Population
allele count: 258
allele frequency: 2.524955960070464e-2
allele num: 10218
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 63
allele frequency: 3.758949880668258e-2
allele num: 1676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

FS
type: SiteQuality
SIO_000300: 1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.463e0

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.88728e5

GenotypeQuality
all individuals: 2851
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.658447354942563e-5
allele num: 27334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 7.89702e5

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 5.76e0

VQSLOD
type: SiteQuality
SIO_000300: -6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.922e0

GenotypeQuality
all individuals: 4507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5794
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.635306092773011e-5
allele num: 27508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2978
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

FS
type: SiteQuality
SIO_000300: 2.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 8.01771e5

GenotypeQuality
all individuals: 2468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3030
num of homozygotes: 0

South Asian
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: 1720
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.797985450475658e-4
allele num: 3574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.10088e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

GenotypeQuality
all individuals: 3410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.183431952662722e-3
allele num: 5070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 8.54508e5

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 2.573e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 28457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.044862518089724e-5
allele num: 11056
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 9.39781e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.079002079002079e-4
allele num: 4810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.6e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

DP
type: SiteQuality
SIO_000300: 9.90232e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 2.795e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1987
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.735379397122381e-5
allele num: 36558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 6.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.698e-1

DP
type: SiteQuality
SIO_000300: 9.96652e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.661273153076432e-5
allele num: 37576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.974e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 1.005649e6

MQ
type: SiteQuality
SIO_000300: 5.759e1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 706
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 37

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1731
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variant carriers: 0

GenotypeQuality
all individuals: 14842
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variant carriers: 2

GenotypeQuality
all individuals: 878
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variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 5.75e1
variant carriers: 1

South Asian
type: Population
allele count: 44
allele frequency: 3.787878787878788e-3
allele num: 11616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.149e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.00166e6

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
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GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 544
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GenotypeQuality
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GenotypeQuality
all individuals: 16530
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GenotypeQuality
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GenotypeQuality
all individuals: 825
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GenotypeQuality
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GenotypeQuality
all individuals: 581
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GenotypeQuality
all individuals: 962
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.008245e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 158
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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
all individuals: 777
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 544
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GenotypeQuality
all individuals: 2577
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.626878217925817e-5
allele num: 38068
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.008245e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-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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GenotypeQuality
all individuals: 2570
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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: 2512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.661981579087473e-5
allele num: 37566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.622849724115547e-4
allele num: 6162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.83697e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

FS
type: SiteQuality
SIO_000300: 1.348e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.682835220260772e-5
allele num: 37274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 5040
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

VQSLOD
type: SiteQuality
SIO_000300: -3.249e0

DP
type: SiteQuality
SIO_000300: 9.74354e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.104e0

GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 12052
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2734
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GenotypeQuality
all individuals: 29758
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GenotypeQuality
all individuals: 377
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GenotypeQuality
all individuals: 979
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GenotypeQuality
all individuals: 914
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GenotypeQuality
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GenotypeQuality
all individuals: 1655
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GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.175213442819076e-4
allele num: 36778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.111842105263158e-4
allele num: 2432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
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FS
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 9.57972e5

GenotypeQuality
all individuals: 1615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36092
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 9.331e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.155e0

QD
type: SiteQuality
SIO_000300: 2.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.825497287522604e-5
allele num: 35392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.05893e5

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
all individuals: 752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.966887417218543e-4
allele num: 6040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

DP
type: SiteQuality
SIO_000300: 9.0108e5

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 1458
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6577
bin: 7.5e0
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GenotypeQuality
all individuals: 1490
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30775
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variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3388
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.545824847250509e-4
allele num: 3928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

DP
type: SiteQuality
SIO_000300: 8.33634e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 3154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 1322
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variant carriers: 0

GenotypeQuality
all individuals: 1164
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variant carriers: 0

GenotypeQuality
all individuals: 2376
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variant carriers: 0

GenotypeQuality
all individuals: 3527
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variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.387735547748324e-5
allele num: 31310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 8.00768e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.093e-1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 1

GenotypeQuality
all individuals: 2590
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 737
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variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.44140625e-4
allele num: 4096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 4.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 7.83497e5

VQSLOD
type: SiteQuality
SIO_000300: -2.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.319e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.613e1

DP
type: SiteQuality
SIO_000300: 7.82839e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.301201637396012e-5
allele num: 30292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.319e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.613e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.82839e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
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GenotypeQuality
all individuals: 3503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 847
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GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.373819163292847e-4
allele num: 2964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.869e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.313e0

VQSLOD
type: SiteQuality
SIO_000300: -1.901e0

DP
type: SiteQuality
SIO_000300: 7.67353e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 11208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1469
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 6.25e1
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GenotypeQuality
all individuals: 2577
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 14242
bin: 2.25e1
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GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 701
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variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2056
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 3.919141914191419e-3
allele num: 4848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

FS
type: SiteQuality
SIO_000300: 1.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.3371e5

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 3632
bin: 6.75e1
variant carriers: 24

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6166
bin: 6.25e1
variant carriers: 20

GenotypeQuality
all individuals: 2263
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 11

GenotypeQuality
all individuals: 3291
bin: 9.25e1
variant carriers: 40

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 33368
bin: 9.75e1
variant carriers: 12709

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 3

African
type: Population
allele count: 2916
allele frequency: 2.815758980301274e-1
allele num: 10356
num of homozygotes: 415

European (Non-Finnish)
type: Population
allele count: 7463
allele frequency: 1.123607347184583e-1
allele num: 66420
num of homozygotes: 427

South Asian
type: Population
allele count: 2002
allele frequency: 1.213186280450854e-1
allele num: 16502
num of homozygotes: 149

East Asian
type: Population
allele count: 192
allele frequency: 2.231520223152022e-2
allele num: 8604
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 482
allele frequency: 7.309675462541705e-2
allele num: 6594
num of homozygotes: 10

Latino
type: Population
allele count: 876
allele frequency: 7.61341908569442e-2
allele num: 11506
num of homozygotes: 32

Other
type: Population
allele count: 93
allele frequency: 1.028761061946903e-1
allele num: 904
num of homozygotes: 3

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.651739e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.6e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 4553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

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

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