1-243364022-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364022
    reference: chr 1
allele count: 1
allele frequency: 1.304835721182703e-5
allele num: 76638
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.334-40A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.334-40A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.334-40A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.334-40A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.39-40A>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-243364042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364042
    reference: chr 1
allele count: 1
allele frequency: 9.933840621461069e-6
allele num: 100666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.333+37T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.333+37T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.333+37T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.333+37T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.38+37T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-243364044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364044
    reference: chr 1
allele count: 1
allele frequency: 9.873032798214955e-6
allele num: 101286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.38+35A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.333+35A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.333+35A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.333+35A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.333+35A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
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genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
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genotype quality: GenotypeQuality
  all individuals: 139
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genotype quality: GenotypeQuality
  all individuals: 2590
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genotype quality: GenotypeQuality
  all individuals: 40019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

1-243364057-GAAGTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364052
    reference: chr 1
allele count: 4
allele frequency: 3.824311145954835e-5
allele num: 104594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.333+17_333+21delAACTT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.333+17_333+21delAACTT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.333+17_333+21delAACTT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.333+17_333+21delAACTT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.38+17_38+21delAACTT
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38917
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: GAAGTT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-243364079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364079
    reference: chr 1
allele count: 1
allele frequency: 9.099015486524358e-6
allele num: 109902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.333G>A
  hgvsp: ENST00000366542.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.333G>A
  hgvsp: ENST00000522191.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.333G>A
  hgvsp: ENST00000366544.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.333G>A
  hgvsp: ENST00000523424.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.38G>A
  hgvsp: ENST00000336415.4:c.38G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.333G>A
  hgvsp: ENST00000366543.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
hgvs: c.333G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-243364080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364080
    reference: chr 1
allele count: 1
allele frequency: 9.064210869801675e-6
allele num: 110324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.332A>G
  hgvsp: ENSP00000427944.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.332A>G
  hgvsp: ENSP00000355502.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.332A>G
  hgvsp: ENSP00000428183.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.37A>G
  hgvsp: ENSP00000338161.4:p.Lys13Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.332A>G
  hgvsp: ENSP00000355501.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.332A>G
  hgvsp: ENSP00000355500.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys111Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-243364105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364105
    reference: chr 1
allele count: 1
allele frequency: 8.818808755313333e-6
allele num: 113394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.307A>G
  hgvsp: ENSP00000428183.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.307A>G
  hgvsp: ENSP00000355502.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.307A>G
  hgvsp: ENSP00000427944.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.12A>G
  hgvsp: ENSP00000338161.4:p.Met5Val
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.307A>G
  hgvsp: ENSP00000355500.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.307A>G
  hgvsp: ENSP00000355501.1:p.Met103Val
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met103Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-243364109-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364109
    reference: chr 1
allele count: 20
allele frequency: 1.762145588468519e-4
allele num: 113498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.303A>G
  hgvsp: ENST00000523424.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.303A>G
  hgvsp: ENST00000522191.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.303A>G
  hgvsp: ENST00000366542.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.8A>G
  hgvsp: ENST00000336415.4:c.8A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.303A>G
  hgvsp: ENST00000366544.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.303A>G
  hgvsp: ENST00000366543.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41207
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly101Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-243364113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364113
    reference: chr 1
allele count: 1
allele frequency: 8.805762490974094e-6
allele num: 113562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000338161
  ensembl transcript: ENST00000336415
  gene symbol: CEP170
  hgvsc: ENST00000336415.4:c.4A>G
  hgvsp: ENSP00000338161.4:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.299A>G
  hgvsp: ENSP00000355502.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.299A>G
  hgvsp: ENSP00000355501.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.299A>G
  hgvsp: ENSP00000427944.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.299A>G
  hgvsp: ENSP00000428183.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.299A>G
  hgvsp: ENSP00000355500.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln100Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-243364136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364136
    reference: chr 1
allele count: 1
allele frequency: 8.849870791886438e-6
allele num: 112996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.276T>C
  hgvsp: ENST00000523424.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.276T>C
  hgvsp: ENST00000366543.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.276T>C
  hgvsp: ENST00000366542.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.276T>C
  hgvsp: ENST00000366544.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.276T>C
  hgvsp: ENST00000522191.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 1
hgvs: c.276T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-243364143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364143
    reference: chr 1
allele count: 4
allele frequency: 3.585000358500036e-5
allele num: 111576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-6G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-6G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-6G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-6G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-6G>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35580
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
hgvs: c.275-6G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-243364144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364144
    reference: chr 1
allele count: 1
allele frequency: 8.975210468685491e-6
allele num: 111418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-7C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-7C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-7C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-7C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-7C>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
hgvs: c.275-7C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-243364148-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364148
    reference: chr 1
allele count: 1
allele frequency: 9.047317470370035e-6
allele num: 110530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-11G>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-11G>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-11G>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-11G>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-11G>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 304
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
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genotype depth: GenotypeDepth
  all individuals: 253
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genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2232
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genotype quality: GenotypeQuality
  all individuals: 132
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genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
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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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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: 9272
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-243364158-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364158
    reference: chr 1
allele count: 2
allele frequency: 1.833752040049144e-5
allele num: 109066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-21T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-21T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-21T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-21T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-21T>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
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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
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genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 84
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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
  all individuals: 3221
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genotype quality: GenotypeQuality
  all individuals: 548
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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: 866
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-243364161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364161
    reference: chr 1
allele count: 2
allele frequency: 1.84040047114252e-5
allele num: 108672
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-24A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-24A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-24A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-24A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-24A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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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 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
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-243364168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364168
    reference: chr 1
allele count: 1
allele frequency: 9.269558769002595e-6
allele num: 107880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-31T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
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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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21496
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-243364170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364170
    reference: chr 1
allele count: 1
allele frequency: 9.347192103492111e-6
allele num: 106984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-33T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-33T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-33T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-33T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-33T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
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genotype depth: GenotypeDepth
  all individuals: 290
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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 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: 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
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genotype quality: GenotypeQuality
  all individuals: 17223
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-243364177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364177
    reference: chr 1
allele count: 4
allele frequency: 3.771450122572129e-5
allele num: 106060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-40T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-40T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-40T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-40T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-40T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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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genotype depth: GenotypeDepth
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  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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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
  all individuals: 1137
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-243364183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364183
    reference: chr 1
allele count: 1
allele frequency: 9.577993601900274e-6
allele num: 104406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-46C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-46C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-46C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-46C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-46C>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-243364184-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364184
    reference: chr 1
allele count: 1
allele frequency: 9.587911561103761e-6
allele num: 104298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-47T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-47T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-47T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-47T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-47T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
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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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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: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-243364184-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364184
    reference: chr 1
allele count: 6
allele frequency: 5.752746936662256e-5
allele num: 104298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-47T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-47T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-47T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-47T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-47T>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15483
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

1-243364186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364186
    reference: chr 1
allele count: 1
allele frequency: 9.74487906605079e-6
allele num: 102618
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-49G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-49G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-49G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-49G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-49G>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
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genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3489
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
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genotype quality: GenotypeQuality
  all individuals: 839
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genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4924
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1172
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genotype quality: GenotypeQuality
  all individuals: 9392
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genotype quality: GenotypeQuality
  all individuals: 3190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

1-243364187-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243364187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243364188
    reference: chr 1
allele count: 1
allele frequency: 9.756097560975609e-6
allele num: 102500
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.275-51dupT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.275-51dupT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.275-51dupT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.275-51dupT
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.275-51dupT
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
  all individuals: 853
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genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 290
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genotype quality: GenotypeQuality
  all individuals: 290
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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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  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
  all individuals: 7191
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genotype quality: GenotypeQuality
  all individuals: 277
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genotype quality: GenotypeQuality
  all individuals: 8225
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genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-243375044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375044
    reference: chr 1
allele count: 1
allele frequency: 1.809627216793341e-4
allele num: 5526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+144A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+144A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+144A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.651A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+144A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+144A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-243375058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375058
    reference: chr 1
allele count: 1
allele frequency: 1.084363478638039e-4
allele num: 9222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+130A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+130A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+130A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+130A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+130A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.637A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-243375064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375064
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 11148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+124A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+124A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+124A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+124A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+124A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.631A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28060
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26712
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-243375071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375071
    reference: chr 1
allele count: 5
allele frequency: 3.684055408193339e-4
allele num: 13572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+117T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+117T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.624T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+117T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+117T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+117T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30770
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-243375077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375077
    reference: chr 1
allele count: 1
allele frequency: 6.65335994677312e-5
allele num: 15030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+111A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+111A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+111A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.618A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+111A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+111A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-243375097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375097
    reference: chr 1
allele count: 19
allele frequency: 1.005184636546397e-3
allele num: 18902
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+91A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+91A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+91A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+91A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+91A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.598A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33074
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11473
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7598
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10033
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 4
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-243375126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375126
    reference: chr 1
allele count: 1
allele frequency: 4.191114836546522e-5
allele num: 23860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+62G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+62G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+62G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+62G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.569G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+62G>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-243375127-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375127
    reference: chr 1
allele count: 1
allele frequency: 4.144905910635829e-5
allele num: 24126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+61A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.568A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+61A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+61A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+61A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+61A>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27791
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9080
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-243375136-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375136
    reference: chr 1
allele count: 2
allele frequency: 7.255840951966333e-5
allele num: 27564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+52T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+52T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+52T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.559T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+52T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+52T>A
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30730
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-243375143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375143
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 31422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+45T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+45T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+45T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.552T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+45T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+45T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34977
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-243375159-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375159
    reference: chr 1
allele count: 1
allele frequency: 2.126573664511739e-5
allele num: 47024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.536T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+29T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+29T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+29T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+29T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+29T>A
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-243375166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375166
    reference: chr 1
allele count: 1
allele frequency: 1.667444807576869e-5
allele num: 59972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+22T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+22T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+22T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+22T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.529T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+22T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-243375171-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375171
    reference: chr 1
allele count: 2
allele frequency: 2.95351172544155e-5
allele num: 67716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.274+17T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.274+17T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.274+17T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.274+17T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.274+17T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.524T>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28055
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-243375192-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375192
    reference: chr 1
allele count: 1
allele frequency: 1.399776035834267e-5
allele num: 71440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.270A>C
  hgvsp: ENST00000366543.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.270A>C
  hgvsp: ENST00000523424.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.270A>C
  hgvsp: ENST00000522191.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.270A>C
  hgvsp: ENST00000366544.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.503A>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.270A>C
  hgvsp: ENST00000366542.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25837
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly90Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-243375219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375219
    reference: chr 1
allele count: 1
allele frequency: 1.580228184949907e-5
allele num: 63282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.243G>A
  hgvsp: ENST00000523424.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.476G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.243G>A
  hgvsp: ENST00000366542.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.243G>A
  hgvsp: ENST00000366544.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.243G>A
  hgvsp: ENST00000366543.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.243G>A
  hgvsp: ENST00000522191.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.243G>A
  hgvsp: ENST00000522995.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu81Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-243375221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375221
    reference: chr 1
allele count: 1
allele frequency: 1.644574548564286e-5
allele num: 60806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.241T>C
  hgvsp: ENST00000366544.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.241T>C
  hgvsp: ENST00000522995.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.241T>C
  hgvsp: ENST00000366543.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.241T>C
  hgvsp: ENST00000523424.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.241T>C
  hgvsp: ENST00000522191.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.474T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.241T>C
  hgvsp: ENST00000366542.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu81Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

1-243375234-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375234
    reference: chr 1
allele count: 81
allele frequency: 1.595618942557718e-3
allele num: 50764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.228G>C
  hgvsp: ENSP00000355500.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.228G>C
  hgvsp: ENSP00000428183.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.461G>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.228G>C
  hgvsp: ENSP00000355502.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.228G>C
  hgvsp: ENSP00000428400.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.228G>C
  hgvsp: ENSP00000427944.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.228G>C
  hgvsp: ENSP00000355501.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29182
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 6
hgvs: p.Gln76His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-243375240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375240
    reference: chr 1
allele count: 141
allele frequency: 3.029261375843252e-3
allele num: 46546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.222G>A
  hgvsp: ENST00000366543.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.222G>A
  hgvsp: ENST00000366544.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.455G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.222G>A
  hgvsp: ENST00000366542.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.222G>A
  hgvsp: ENST00000522995.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.222G>A
  hgvsp: ENST00000522191.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.222G>A
  hgvsp: ENST00000523424.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29671
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro74Pro
num of homozygotes: 2
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-243375241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375241
    reference: chr 1
allele count: 1
allele frequency: 2.190484535179182e-5
allele num: 45652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.221C>T
  hgvsp: ENSP00000427944.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.221C>T
  hgvsp: ENSP00000355500.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.454C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.221C>T
  hgvsp: ENSP00000428183.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.221C>T
  hgvsp: ENSP00000355502.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.221C>T
  hgvsp: ENSP00000428400.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.221C>T
  hgvsp: ENSP00000355501.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29927
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35997
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro74Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

1-243375251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375251
    reference: chr 1
allele count: 2
allele frequency: 4.710093730865244e-5
allele num: 42462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.211G>A
  hgvsp: ENSP00000428400.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.211G>A
  hgvsp: ENSP00000355500.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.211G>A
  hgvsp: ENSP00000355502.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.211G>A
  hgvsp: ENSP00000355501.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.211G>A
  hgvsp: ENSP00000428183.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.211G>A
  hgvsp: ENSP00000427944.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.444G>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val71Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-243375274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375274
    reference: chr 1
allele count: 1
allele frequency: 3.100582909587002e-5
allele num: 32252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-8C>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
hgvs: c.196-8C>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-243375280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375280
    reference: chr 1
allele count: 1
allele frequency: 3.419037199124726e-5
allele num: 29248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-14T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25350
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-243375286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375286
    reference: chr 1
allele count: 1
allele frequency: 3.785011355034065e-5
allele num: 26420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-20C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-20C>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-243375287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375287
    reference: chr 1
allele count: 1
allele frequency: 4.029983074071089e-5
allele num: 24814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-21T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-243375288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375288
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-22A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26611
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7492
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27472
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 392
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-243375298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375298
    reference: chr 1
allele count: 1
allele frequency: 5.618608832453085e-5
allele num: 17798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-32G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-32G>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17198
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.75e1
  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
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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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2344
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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: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-243375299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375299
    reference: chr 1
allele count: 2
allele frequency: 1.183431952662722e-4
allele num: 16900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-33C>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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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
  all individuals: 4083
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
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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
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 570
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2791
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-243375302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375302
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375302
    reference: chr 1
allele count: 1
allele frequency: 6.232082762059081e-5
allele num: 16046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-36A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

1-243375303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243375303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243375303
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 15760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.196-37C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.429-37C>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-243384982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243384982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243384982
    reference: chr 1
allele count: 4
allele frequency: 5.300119252683186e-5
allele num: 75470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.457A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+44A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15685
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-243384995-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243384995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243384995
    reference: chr 1
allele count: 7
allele frequency: 8.983572895277207e-5
allele num: 77920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.444T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+31T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+31T>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-243384996-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243384996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243384996
    reference: chr 1
allele count: 19
allele frequency: 2.422604171979395e-4
allele num: 78428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.443T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+30T>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+30T>A
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19553
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-243384997-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243384997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243384996
    reference: chr 1
allele count: 5
allele frequency: 6.34372858991601e-5
allele num: 78818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.441delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+28delG
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-243384999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243384999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243384999
    reference: chr 1
allele count: 5
allele frequency: 6.235035913806863e-5
allele num: 80192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+27T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.440T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-243385017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385017
    reference: chr 1
allele count: 1
allele frequency: 1.06972465287435e-5
allele num: 93482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.422A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+9A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+9A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-243385023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385023
    reference: chr 1
allele count: 2
allele frequency: 2.033057515197105e-5
allele num: 98374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.195+3A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.416A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.428+3A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 6.75e1
  variant carriers: 0
hgvs: c.195+3A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-243385044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385044
    reference: chr 1
allele count: 6
allele frequency: 5.609573672400898e-5
allele num: 106960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.410T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.177T>C
  hgvsp: ENST00000522191.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.395T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.177T>C
  hgvsp: ENST00000522995.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.177T>C
  hgvsp: ENST00000366544.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.177T>C
  hgvsp: ENST00000523424.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.177T>C
  hgvsp: ENST00000366542.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.177T>C
  hgvsp: ENST00000366543.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Asp59Asp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-243385057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385057
    reference: chr 1
allele count: 1
allele frequency: 9.210308176911599e-6
allele num: 108574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.164A>G
  hgvsp: ENSP00000428183.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.382A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.164A>G
  hgvsp: ENSP00000427944.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.164A>G
  hgvsp: ENSP00000428400.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.164A>G
  hgvsp: ENSP00000355500.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.164A>G
  hgvsp: ENSP00000355501.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.164A>G
  hgvsp: ENSP00000355502.1:p.His55Arg
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.397A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His55Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-243385065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385065
    reference: chr 1
allele count: 6
allele frequency: 5.506709007140366e-5
allele num: 108958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.389G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.374G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.156G>A
  hgvsp: ENST00000366542.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.156G>A
  hgvsp: ENST00000522995.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.156G>A
  hgvsp: ENST00000366544.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.156G>A
  hgvsp: ENST00000522191.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.156G>A
  hgvsp: ENST00000366543.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.156G>A
  hgvsp: ENST00000523424.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr52Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-243385071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385071
    reference: chr 1
allele count: 2
allele frequency: 1.836378661279956e-5
allele num: 108910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.150G>A
  hgvsp: ENST00000366542.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.150G>A
  hgvsp: ENST00000522191.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.150G>A
  hgvsp: ENST00000366543.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.383G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.368G>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.150G>A
  hgvsp: ENST00000523424.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.150G>A
  hgvsp: ENST00000366544.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.150G>A
  hgvsp: ENST00000522995.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala50Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-243385089-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385089
    reference: chr 1
allele count: 2
allele frequency: 1.899912604020215e-5
allele num: 105268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.132T>G
  hgvsp: ENST00000366544.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.350T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.132T>G
  hgvsp: ENST00000522191.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.132T>G
  hgvsp: ENST00000366543.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.132T>G
  hgvsp: ENST00000522995.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.365T>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.132T>G
  hgvsp: ENST00000523424.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.132T>G
  hgvsp: ENST00000366542.1:c.132T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-243385092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385092
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385092
    reference: chr 1
allele count: 1
allele frequency: 9.583684735106954e-6
allele num: 104344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.129C>T
  hgvsp: ENST00000366544.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.129C>T
  hgvsp: ENST00000523424.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.129C>T
  hgvsp: ENST00000366542.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.129C>T
  hgvsp: ENST00000522191.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.129C>T
  hgvsp: ENST00000366543.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.362C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.347C>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.129C>T
  hgvsp: ENST00000522995.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His43His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-243385102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385102
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385102
    reference: chr 1
allele count: 9
allele frequency: 8.93832555367961e-5
allele num: 100690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.352A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.119A>G
  hgvsp: ENSP00000355501.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.119A>G
  hgvsp: ENSP00000427944.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.119A>G
  hgvsp: ENSP00000355502.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.119A>G
  hgvsp: ENSP00000428183.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.119A>G
  hgvsp: ENSP00000355500.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.337A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.119A>G
  hgvsp: ENSP00000428400.1:p.Asp40Gly
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp40Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

1-243385109-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385109
    reference: chr 1
allele count: 1
allele frequency: 1.02318538072728e-5
allele num: 97734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.112A>T
  hgvsp: ENSP00000355502.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.112A>T
  hgvsp: ENSP00000428400.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.345A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.112A>T
  hgvsp: ENSP00000428183.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.112A>T
  hgvsp: ENSP00000427944.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.112A>T
  hgvsp: ENSP00000355500.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.330A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.112A>T
  hgvsp: ENSP00000355501.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser38Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

1-243385130-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385130
    reference: chr 1
allele count: 8
allele frequency: 9.708973518774727e-5
allele num: 82398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.324-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.339-15C>A
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.106-15C>A
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22420
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-243385131-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385131
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 81364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.324-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.339-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.106-16A>G
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-243385133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385133
    reference: chr 1
allele count: 1
allele frequency: 1.266143327424664e-5
allele num: 78980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.324-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.339-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.106-18T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32221
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-243385143-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385143
    reference: chr 1
allele count: 2
allele frequency: 3.188877196339169e-5
allele num: 62718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.339-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.324-28A>T
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.106-28A>T
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19054
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19691
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9636
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-243385144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 243385144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 243385144
    reference: chr 1
allele count: 2
allele frequency: 3.182483610209407e-5
allele num: 62844
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355500
  ensembl transcript: ENST00000366542
  gene symbol: CEP170
  hgvsc: ENST00000366542.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355501
  ensembl transcript: ENST00000366543
  gene symbol: CEP170
  hgvsc: ENST00000366543.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000355502
  ensembl transcript: ENST00000366544
  gene symbol: CEP170
  hgvsc: ENST00000366544.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428400
  ensembl transcript: ENST00000522995
  gene symbol: CEP170
  hgvsc: ENST00000522995.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000523581
  gene symbol: CEP170
  hgvsc: ENST00000523581.1:n.324-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000428183
  ensembl transcript: ENST00000523424
  gene symbol: CEP170
  hgvsc: ENST00000523424.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl transcript: ENST00000522522
  gene symbol: CEP170
  hgvsc: ENST00000522522.1:n.339-29T>C
  variant of: http://identifiers.org/hgnc/28920
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143702
  ensembl protein: ENSP00000427944
  ensembl transcript: ENST00000522191
  gene symbol: CEP170
  hgvsc: ENST00000522191.1:c.106-29T>C
  variant of: http://identifiers.org/hgnc/28920
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.437716347325825e-5
allele num: 41022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.244e1

QD
type: SiteQuality
SIO_000300: 2.656e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.595e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 1.023451e6

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.815804764671702e-5
allele num: 55072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 4.43e1

VQSLOD
type: SiteQuality
SIO_000300: -1.813e0

DP
type: SiteQuality
SIO_000300: 1.221403e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 1.805e1

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.295336787564767e-3
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

MQ
type: SiteQuality
SIO_000300: 4.803e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

DP
type: SiteQuality
SIO_000300: 1.228535e6

GenotypeQuality
all individuals: 1335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39913
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.430139492339355e-4
allele num: 8746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740341106856944e-5
allele num: 57460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

FS
type: SiteQuality
SIO_000300: 3.793e0

MQ
type: SiteQuality
SIO_000300: 4.127e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.25205e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

GenotypeQuality
all individuals: 1030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
all individuals: 591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60670
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14824
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 4.621e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 3.448e0

VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.366e1

DP
type: SiteQuality
SIO_000300: 1.310359e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.584052137243626e-5
allele num: 10434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.601e0

QD
type: SiteQuality
SIO_000300: 1.658e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.31447e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 4.601e1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592103168285305e-5
allele num: 62810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.342358e6

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.352e0

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 4.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 4449
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 326
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.180459258316901e-4
allele num: 62884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.112e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.352e0

DP
type: SiteQuality
SIO_000300: 1.343209e6

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 4.183e1

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.526563111865292e-5
allele num: 15322
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 1.342054e6

FS
type: SiteQuality
SIO_000300: 7.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 6.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.146e0

MQ
type: SiteQuality
SIO_000300: 4.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.079913606911447e-4
allele num: 9260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 4.302e0

DP
type: SiteQuality
SIO_000300: 1.33013e6

VQSLOD
type: SiteQuality
SIO_000300: -2.663e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

QD
type: SiteQuality
SIO_000300: 9.15e0

MQ
type: SiteQuality
SIO_000300: 4.144e1

GenotypeQuality
all individuals: 1532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.258036490008688e-4
allele num: 9208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.572327044025157e-4
allele num: 6360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.292501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 1.4246e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 4.939e1

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.260716086737267e-4
allele num: 7932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15104
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: -2.72e0

FS
type: SiteQuality
SIO_000300: 3.283e0

DP
type: SiteQuality
SIO_000300: 1.283344e6

MQRankSum
type: SiteQuality
SIO_000300: -1.516e0

MQ
type: SiteQuality
SIO_000300: 4.536e1

QD
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-4
allele num: 6320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3835e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.822e0

MQRankSum
type: SiteQuality
SIO_000300: -1.259e0

VQSLOD
type: SiteQuality
SIO_000300: -3.412e0

DP
type: SiteQuality
SIO_000300: 1.247296e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.019e1

MQ
type: SiteQuality
SIO_000300: 4.792e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.204e0

GenotypeQuality
all individuals: 1035
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 684
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.294330830960394e-4
allele num: 7726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.721333512568894e-5
allele num: 14878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.597e1

FS
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 4.89e1

DP
type: SiteQuality
SIO_000300: 1.154563e6

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.206531332744925e-4
allele num: 9064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.257e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

QD
type: SiteQuality
SIO_000300: 1.021e1

DP
type: SiteQuality
SIO_000300: 1.135551e6

FS
type: SiteQuality
SIO_000300: 3.407e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 524
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.109631602308034e-4
allele num: 9012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14754
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.403e1

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.098961e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58920
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.818491749624983e-5
allele num: 14666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.435e0

VQSLOD
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.056e1

QD
type: SiteQuality
SIO_000300: 2.258e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.078362e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121830827911151e-4
allele num: 8914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.061855670103093e-4
allele num: 14550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.914e0

MQ
type: SiteQuality
SIO_000300: 4.875e1

MQRankSum
type: SiteQuality
SIO_000300: -3.179e0

DP
type: SiteQuality
SIO_000300: 1.061411e6

QD
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.37438152831226e-4
allele num: 7276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.285e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.582e1

DP
type: SiteQuality
SIO_000300: 1.055508e6

MQ
type: SiteQuality
SIO_000300: 5.572e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 1641
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 11482
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.947339169098236e-5
allele num: 14394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 2.216e0

MQ
type: SiteQuality
SIO_000300: 5.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.055309e6

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 8233
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variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.473669584549118e-4
allele num: 14394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.049538203190596e-4
allele num: 9528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

FS
type: SiteQuality
SIO_000300: 2.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.189e0

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.055309e6

MQ
type: SiteQuality
SIO_000300: 5.184e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2942
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.395478649176668e-4
allele num: 7166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

MQ
type: SiteQuality
SIO_000300: 5.295e1

VQSLOD
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.058246e6

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.152e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56246
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.02543206407194e-5
allele num: 14234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.05989e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.203e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.703703703703704e-4
allele num: 2700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1738
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.206e1

MQ
type: SiteQuality
SIO_000300: 4.808e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.64e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.145e-1

DP
type: SiteQuality
SIO_000300: 1.34847e5

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
all individuals: 254
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 430
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.941176470588235e-4
allele num: 3400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 126
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.223e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 4.363e1

DP
type: SiteQuality
SIO_000300: 2.19643e5

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 510
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

African
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allele frequency: 4.208754208754209e-3
allele num: 1188
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 556
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.626545217957059e-4
allele num: 6148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.59e-2

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.758e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.76105e5

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 450
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European (Non-Finnish)
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allele count: 15
allele frequency: 1.899214991136997e-3
allele num: 7898
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 4.225352112676056e-3
allele num: 710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.59895e5

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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European (Non-Finnish)
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allele count: 1
allele frequency: 9.444654325651681e-5
allele num: 10588
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.222e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.99165e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.907e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 710
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
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South Asian
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allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 3.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.04021e5

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
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European (Non-Finnish)
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allele count: 2
allele frequency: 1.545117428924598e-4
allele num: 12944
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1724
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Latino
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8038
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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FS
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele num: 8836
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2802
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BaseQRankSum
type: SiteQuality
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QD
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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Latino
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allele frequency: 2.179598953792502e-4
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 5.476151360823613e-5
allele num: 36522
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 3.796e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.435e0

VQSLOD
type: SiteQuality
SIO_000300: -3.074e0

GenotypeQuality
all individuals: 994
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.580511973575557e-5
allele num: 38752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 4.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 3.684e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 9.28631e5

QD
type: SiteQuality
SIO_000300: 7.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.988e0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 18503
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variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.226091221186856e-4
allele num: 8156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.854e0

DP
type: SiteQuality
SIO_000300: 8.21582e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 2.81e1

QD
type: SiteQuality
SIO_000300: 7.76e0

FS
type: SiteQuality
SIO_000300: 1.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.269e0

GenotypeQuality
all individuals: 354
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.214348981399469e-4
allele num: 4516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 7.93555e5

MQ
type: SiteQuality
SIO_000300: 3.491e1

VQSLOD
type: SiteQuality
SIO_000300: -5.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
SIO_000300: 8.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
SIO_000300: 4.931e0

GenotypeQuality
all individuals: 36633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 80
allele frequency: 1.344086021505376e-2
allele num: 5952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.444987775061124e-4
allele num: 4090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

MQ
type: SiteQuality
SIO_000300: 3.47e1

VQSLOD
type: SiteQuality
SIO_000300: -3.514e0

FS
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 6.65205e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 434
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 35767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1000
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 3

East Asian
type: Population
allele count: 134
allele frequency: 4.009575104727708e-2
allele num: 3342
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.526484506182262e-4
allele num: 26204
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 5.0e-3
allele num: 400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.127659574468085e-4
allele num: 4700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

DP
type: SiteQuality
SIO_000300: 6.33412e5

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 2.991e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.631e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 2421
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 7356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 2.043318348998774e-4
allele num: 4894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.422e0

DP
type: SiteQuality
SIO_000300: 6.26724e5

MQ
type: SiteQuality
SIO_000300: 2.76e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

GenotypeQuality
all individuals: 1926
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 35953
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variant carriers: 0

GenotypeQuality
all individuals: 6748
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.959475566150178e-4
allele num: 3356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.031000000000001e0

MQ
type: SiteQuality
SIO_000300: 3.037e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 5.94049e5

VQSLOD
type: SiteQuality
SIO_000300: -5.441e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

QD
type: SiteQuality
SIO_000300: 5.74e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28423
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
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variant carriers: 0

GenotypeQuality
all individuals: 19185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.2999788000848e-5
allele num: 18868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 9.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

DP
type: SiteQuality
SIO_000300: 4.96274e5

MQ
type: SiteQuality
SIO_000300: 3.116e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 1.758e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.379e0

GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1188
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.219206680584551e-4
allele num: 1916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.84e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 3.274e0

DP
type: SiteQuality
SIO_000300: 4.67055e5

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.027e0

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 5.753739930955121e-4
allele num: 1738
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

DP
type: SiteQuality
SIO_000300: 4.29848e5

MQ
type: SiteQuality
SIO_000300: 2.523e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.951e0

QD
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SIO_000300: 5.09e0

VQSLOD
type: SiteQuality
SIO_000300: -7.797e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

FS
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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.788866259334691e-5
allele num: 14730
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 2.956e1

DP
type: SiteQuality
SIO_000300: 4.14298e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.145e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14744
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 2.764e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.14152e5

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 4.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.407337723424271e-5
allele num: 10630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.136e0

DP
type: SiteQuality
SIO_000300: 3.56915e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.037e0

MQ
type: SiteQuality
SIO_000300: 2.504e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 7.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.991635132443736e-4
allele num: 10042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 3.49221e5

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 2.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.046682018002931e-4
allele num: 9554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.745e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.13e-2

DP
type: SiteQuality
SIO_000300: 3.41195e5

QD
type: SiteQuality
SIO_000300: 3.34e0

VQSLOD
type: SiteQuality
SIO_000300: -4.678e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.578e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.38901e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 9.773260359655981e-5
allele num: 40928
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4694
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African
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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: 10968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 4.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 9.32041e5

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
SIO_000300: 1.571e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

Latino
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allele frequency: 1.050420168067227e-3
allele num: 6664
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 6858
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 42306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.007286e6

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele count: 0
allele frequency: 0.0e0
allele num: 42568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

African
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East Asian
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South Asian
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allele count: 19
allele frequency: 1.681713577624358e-3
allele num: 11298
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 6726
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
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FS
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InbreedingCoeff
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SIO_000300: -4.4e-3

DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.448855404230658e-4
allele num: 6902
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.913660555884093e-4
allele num: 6764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42794
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 1.028073e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 6.053e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

QD
type: SiteQuality
SIO_000300: 1.681e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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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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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 838
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.369101712687871e-4
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.053799e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.953659203688509e-5
allele num: 51186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7060
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.238173e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: -2.001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 11500
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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: 2

GenotypeQuality
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GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.7000037000037e-5
allele num: 54054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 5.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.291621e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.559e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.522567703109327e-4
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59308
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.534e0

DP
type: SiteQuality
SIO_000300: 1.382946e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

QD
type: SiteQuality
SIO_000300: 1.485e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 1.6257e1

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

DP
type: SiteQuality
SIO_000300: 1.402261e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

QD
type: SiteQuality
SIO_000300: 1.761e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.135589370883489e-4
allele num: 8806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.033338022225348e-5
allele num: 14218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.95703899537343e-5
allele num: 60520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 1.4107e6

QD
type: SiteQuality
SIO_000300: 1.139e1

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: 2

GenotypeQuality
all individuals: 7478
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.30611300294244e-5
allele num: 60494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.407724e6

FS
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.592e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 541
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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
all individuals: 440
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GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.028397565922921e-4
allele num: 9860
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

FS
type: SiteQuality
SIO_000300: 9.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 1.344629e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.736955464461891e-5
allele num: 57572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.086e-1

DP
type: SiteQuality
SIO_000300: 1.330399e6

FS
type: SiteQuality
SIO_000300: 1.837e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.181412444211079e-3
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.264424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1932
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.48502994011976e-5
allele num: 13360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 4.416e0

DP
type: SiteQuality
SIO_000300: 1.213724e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.142530705512711e-3
allele num: 7002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 9.78578e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 9.64932e5

VQSLOD
type: SiteQuality
SIO_000300: -4.786e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 9.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.52224305437191e-5
allele num: 11734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.40288e5

QD
type: SiteQuality
SIO_000300: 1.499e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.943634596695821e-4
allele num: 10290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 3.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 8.26286e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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
all individuals: 155
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.459419576979833e-4
allele num: 4066
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.374e1