12-88524292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524292
    reference: chr 12
allele count: 6
allele frequency: 7.307982753160702e-5
allele num: 82102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+30G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+30G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+30G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+30G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-88524300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524300
    reference: chr 12
allele count: 2
allele frequency: 2.503442233070472e-5
allele num: 79890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+22A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+22A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+22A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+22A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11777
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18513
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15191
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-88524302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524302
    reference: chr 12
allele count: 1
allele frequency: 1.26017592055851e-5
allele num: 79354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+20G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+20G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+20G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+20G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1927
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/12-88524313-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524313
    reference: chr 12
allele count: 1
allele frequency: 1.309757694826457e-5
allele num: 76350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+9T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+9T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+9T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+9T>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-88524318-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524317
    reference: chr 12
allele count: 1
allele frequency: 1.347418346448205e-5
allele num: 74216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+3delG
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+3delG
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+3delG
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+3delG
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.5e0
  variant carriers: 0
hgvs: c.516+3delG
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: TC
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

12-88524321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524321
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 73272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.462+1G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.516+1G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.414+1G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.516+1G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20919
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14638
  bin: 6.25e1
  variant carriers: 0
hgvs: c.516+1G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-88524324-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524324
    reference: chr 12
allele count: 1
allele frequency: 1.393106907024045e-5
allele num: 71782
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.514A>C
  hgvsp: ENSP00000448012.1:p.Lys172Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.460A>C
  hgvsp: ENSP00000447623.1:p.Lys154Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.514A>C
  hgvsp: ENSP00000308021.7:p.Lys172Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.412A>C
  hgvsp: ENSP00000448573.2:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14061
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 326
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 768
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genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys172Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-88524330-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524330
    reference: chr 12
allele count: 1
allele frequency: 1.442044241917342e-5
allele num: 69346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.508A>T
  hgvsp: ENSP00000308021.7:p.Lys170Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.508A>T
  hgvsp: ENSP00000448012.1:p.Lys170Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.454A>T
  hgvsp: ENSP00000447623.1:p.Lys152Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.406A>T
  hgvsp: ENSP00000448573.2:p.Lys136Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
  all individuals: 31106
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys170Ter
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-88524335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524335
    reference: chr 12
allele count: 29
allele frequency: 4.323582908429496e-4
allele num: 67074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.503G>A
  hgvsp: ENSP00000308021.7:p.Arg168His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.503G>A
  hgvsp: ENSP00000448012.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.401G>A
  hgvsp: ENSP00000448573.2:p.Arg134His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.449G>A
  hgvsp: ENSP00000447623.1:p.Arg150His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22181
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.75e1
  variant carriers: 28
hgvs: p.Arg168His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-88524336-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524336
    reference: chr 12
allele count: 3
allele frequency: 4.52106817770812e-5
allele num: 66356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.502C>A
  hgvsp: ENSP00000308021.7:p.Arg168Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.448C>A
  hgvsp: ENSP00000447623.1:p.Arg150Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.502C>A
  hgvsp: ENSP00000448012.1:p.Arg168Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.400C>A
  hgvsp: ENSP00000448573.2:p.Arg134Ser
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg168Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-88524338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524338
    reference: chr 12
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.398A>G
  hgvsp: ENSP00000448573.2:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.500A>G
  hgvsp: ENSP00000308021.7:p.Lys167Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.500A>G
  hgvsp: ENSP00000448012.1:p.Lys167Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.446A>G
  hgvsp: ENSP00000447623.1:p.Lys149Arg
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys167Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-88524348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524348
    reference: chr 12
allele count: 3
allele frequency: 4.945598417408506e-5
allele num: 60660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.496-6C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.496-6C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.394-6C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-6C>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
hgvs: c.496-6C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

12-88524364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524364
    reference: chr 12
allele count: 2
allele frequency: 3.811411365628693e-5
allele num: 52474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.496-22G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.394-22G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-22G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.496-22G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20643
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28167
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-88524380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524380
    reference: chr 12
allele count: 2
allele frequency: 4.980327705563026e-5
allele num: 40158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.496-38C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-38C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.496-38C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.394-38C>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

12-88524380-GAAAGGTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524373
    reference: chr 12
allele count: 1
allele frequency: 2.490163852781513e-5
allele num: 40158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.496-45_496-39delTACCTTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.394-45_394-39delTACCTTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-45_442-39delTACCTTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.496-45_496-39delTACCTTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21313
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: GAAAGGTA
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-88524386-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524386
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 33952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.394-44A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-44A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.496-44A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.496-44A>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22695
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

12-88524926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524926
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524926
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 26602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.495+16A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.495+16A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.393+16A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-584A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23818
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19766
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-88524931-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524931
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 26992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.495+11T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.495+11T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.393+11T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-589T>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25824
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

12-88524964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524964
    reference: chr 12
allele count: 3
allele frequency: 1.057678747708363e-4
allele num: 28364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.473A>G
  hgvsp: ENSP00000448012.1:p.Glu158Gly
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-622A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.473A>G
  hgvsp: ENSP00000308021.7:p.Glu158Gly
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.371A>G
  hgvsp: ENSP00000448573.2:p.Glu124Gly
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25522
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu158Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-88524964-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524964
    reference: chr 12
allele count: 1
allele frequency: 3.525595825694543e-5
allele num: 28364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.371A>C
  hgvsp: ENSP00000448573.2:p.Glu124Ala
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.473A>C
  hgvsp: ENSP00000448012.1:p.Glu158Ala
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-622A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.473A>C
  hgvsp: ENSP00000308021.7:p.Glu158Ala
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu158Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-88524979-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524979
    reference: chr 12
allele count: 2
allele frequency: 6.987631891551953e-5
allele num: 28622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-637A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.458A>T
  hgvsp: ENSP00000308021.7:p.Glu153Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.458A>T
  hgvsp: ENSP00000448012.1:p.Glu153Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.356A>T
  hgvsp: ENSP00000448573.2:p.Glu119Val
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu153Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

12-88524985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524985
    reference: chr 12
allele count: 2
allele frequency: 7.027406886858749e-5
allele num: 28460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.452G>A
  hgvsp: ENSP00000308021.7:p.Arg151Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.452G>A
  hgvsp: ENSP00000448012.1:p.Arg151Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-643G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.350G>A
  hgvsp: ENSP00000448573.2:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg151Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-88524986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524986
    reference: chr 12
allele count: 1
allele frequency: 3.517906142264124e-5
allele num: 28426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.349C>T
  hgvsp: ENSP00000448573.2:p.Arg117Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.451C>T
  hgvsp: ENSP00000308021.7:p.Arg151Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-644C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.451C>T
  hgvsp: ENSP00000448012.1:p.Arg151Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg151Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-88524991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88524991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88524991
    reference: chr 12
allele count: 2
allele frequency: 7.216569242981887e-5
allele num: 27714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-649C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.344C>T
  hgvsp: ENSP00000448573.2:p.Ala115Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.446C>T
  hgvsp: ENSP00000448012.1:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.446C>T
  hgvsp: ENSP00000308021.7:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala149Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-88525005-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525006
    reference: chr 12
allele count: 724
allele frequency: 3.659522846744844e-2
allele num: 19784
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-11dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-664dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-11dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-11dupT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23353
  bin: 2.5e0
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 7.5e0
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 20053
  bin: 7.5e0
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 9
num of homozygotes: 2
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-88525005-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525007
    reference: chr 12
allele count: 9
allele frequency: 4.54913061059442e-4
allele num: 19784
alternate allele: TAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-12_442-11dupTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-12_442-11dupTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-665_442-664dupTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-12_340-11dupTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23353
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20053
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-88525005-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525004
    reference: chr 12
allele count: 3633
allele frequency: 1.836332389809947e-1
allele num: 19784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-11delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-11delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-664delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-11delT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 7.5e0
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 23353
  bin: 2.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 451
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 20053
  bin: 7.5e0
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 147
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: TA
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-88525005-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525003
    reference: chr 12
allele count: 1
allele frequency: 5.054589567327133e-5
allele num: 19784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-12_340-11delTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-12_442-11delTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-665_442-664delTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-12_442-11delTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23353
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20053
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TAA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-88525005-TAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525001
    reference: chr 12
allele count: 1
allele frequency: 5.054589567327133e-5
allele num: 19784
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23353
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20053
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.137138958380714e-4
  allele num: 8794
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6258
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1324
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 492
  num of homozygotes: 0
population: East Asian
population: African
population: Other
reference allele: TAAAA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88525006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525006
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 9474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-664T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-11T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-11T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-11T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 13338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 20198
  bin: 7.5e0
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-88525013-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525013
    reference: chr 12
allele count: 6
allele frequency: 2.458814851241702e-4
allele num: 24402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-18T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-18T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-671T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-18T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28501
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 333
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-88525014-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525015
    reference: chr 12
allele count: 2
allele frequency: 8.254911672445105e-5
allele num: 24228
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-20_442-19insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-20_340-19insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-673_442-672insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-20_442-19insA
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 449
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

12-88525014-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525014
    reference: chr 12
allele count: 813
allele frequency: 3.355621594848935e-2
allele num: 24228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-19T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-19T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-672T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-19T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 7.5e0
  variant carriers: 521
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.5e0
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 27523
  bin: 7.5e0
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 796
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 37
num of homozygotes: 22
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-88525014-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525010
    reference: chr 12
allele count: 1
allele frequency: 4.127455836222553e-5
allele num: 24228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-676_442-673delATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-23_340-20delATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-23_442-20delATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-23_442-20delATTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: AAAAT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-88525016-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525016
    reference: chr 12
allele count: 1
allele frequency: 4.193223750419322e-5
allele num: 23848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-21T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-21T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-21T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-674T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26212
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28064
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-88525017-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525016
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-23delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-23delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-23delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-676delA
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27688
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: AT
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88525018-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525018
    reference: chr 12
allele count: 30
allele frequency: 1.327433628318584e-3
allele num: 22600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-676A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-23A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-23A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-23A>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-88525022-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525022
    reference: chr 12
allele count: 1
allele frequency: 4.422430567840085e-5
allele num: 22612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-27A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-680A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-27A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-27A>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25431
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-88525022-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525019
    reference: chr 12
allele count: 5
allele frequency: 2.211215283920042e-4
allele num: 22612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-30_442-28delCTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-30_442-28delCTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-30_340-28delCTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-683_442-681delCTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25431
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25845
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TAAG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS

12-88525041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525041
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525041
    reference: chr 12
allele count: 1
allele frequency: 5.116659844453541e-5
allele num: 19544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-46T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-46T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-699T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-46T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

12-88525044-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525044
    reference: chr 12
allele count: 1
allele frequency: 5.719514985129261e-5
allele num: 17484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-49T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-702T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-49T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-49T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-88525045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88525045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88525045
    reference: chr 12
allele count: 1
allele frequency: 6.003842459173871e-5
allele num: 16656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.340-50C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.442-50C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.442-703C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.442-50C>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

12-88530347-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530347
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530347
    reference: chr 12
allele count: 1
allele frequency: 8.414391976035812e-6
allele num: 118844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+73A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+73A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*49A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+73A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+73A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5607
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

12-88530354-ACCAATAATAATAAAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530337
    reference: chr 12
allele count: 1
allele frequency: 8.361903169161301e-6
allele num: 119590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7058
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
  all individuals: 48
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38807
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: ACCAATAATAATAAAAAG
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-88530358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530358
    reference: chr 12
allele count: 3
allele frequency: 2.507564486200037e-5
allele num: 119638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+62T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+62T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+62T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+62T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5652
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

12-88530360-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530360
    reference: chr 12
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*36T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+60T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+60T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+60T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+60T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88530365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530365
    reference: chr 12
allele count: 3
allele frequency: 2.505512126678693e-5
allele num: 119736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*31A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+55A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+55A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+55A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+55A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1695
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genotype quality: GenotypeQuality
  all individuals: 40339
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-88530368-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530368
    reference: chr 12
allele count: 5
allele frequency: 4.168056018672891e-5
allele num: 119960
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+52T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+52T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*28T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+52T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+52T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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genotype depth: GenotypeDepth
  all individuals: 142
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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 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: 1709
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genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-88530381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530381
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530381
    reference: chr 12
allele count: 2
allele frequency: 1.660798511924533e-5
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.*15A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+39A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+39A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+39A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+39A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5644
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-88530399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530399
    reference: chr 12
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+21A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+21A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+21A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+21A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.321A>G
  hgvsp: ENST00000552770.2:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro107Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-88530401-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530400
    reference: chr 12
allele count: 73
allele frequency: 6.129714842306788e-4
allele num: 119092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+18delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.318delT
  hgvsp: ENSP00000447527.2:p.Pro107HisfsTer30
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+18delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+18delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+18delT
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro107HisfsTer30
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: GA
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-88530401-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530402
    reference: chr 12
allele count: 8
allele frequency: 6.71749571759648e-5
allele num: 119092
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+18dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+18dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.318dupT
  hgvsp: ENSP00000447527.2:p.Pro107SerfsTer17
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+18dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+18dupT
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro107SerfsTer17
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

12-88530402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530402
    reference: chr 12
allele count: 3
allele frequency: 2.529980266153924e-5
allele num: 118578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+18T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.318T>C
  hgvsp: ENST00000552770.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+18T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+18T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+18T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40889
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe106Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-88530406-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530406
    reference: chr 12
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.441+14T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.441+14T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.441+14T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.339+14T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.314T>G
  hgvsp: ENSP00000447527.2:p.Phe105Cys
  variant of: http://identifiers.org/hgnc/29021
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe105Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-88530442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530442
    reference: chr 12
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.419A>G
  hgvsp: ENSP00000308021.7:p.Lys140Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.419A>G
  hgvsp: ENSP00000448012.1:p.Lys140Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.317A>G
  hgvsp: ENSP00000448573.2:p.Lys106Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.419A>G
  hgvsp: ENSP00000447623.1:p.Lys140Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.278A>G
  hgvsp: ENSP00000447527.2:p.Lys93Arg
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys140Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-88530443-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530443
    reference: chr 12
allele count: 5
allele frequency: 4.142913959962879e-5
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.418A>G
  hgvsp: ENSP00000448012.1:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.277A>G
  hgvsp: ENSP00000447527.2:p.Lys93Glu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.418A>G
  hgvsp: ENSP00000308021.7:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.418A>G
  hgvsp: ENSP00000447623.1:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.316A>G
  hgvsp: ENSP00000448573.2:p.Lys106Glu
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys140Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88530468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530468
    reference: chr 12
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.291G>A
  hgvsp: ENST00000547926.2:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.393G>A
  hgvsp: ENST00000550962.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.393G>A
  hgvsp: ENST00000309041.7:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.393G>A
  hgvsp: ENST00000552810.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.252G>A
  hgvsp: ENST00000552770.2:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu131Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-88530473-CTCTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530469
    reference: chr 12
allele count: 7
allele frequency: 5.801040872476547e-5
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.384_387delTAGA
  hgvsp: ENSP00000447623.1:p.Asp128GlufsTer23
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.243_246delTAGA
  hgvsp: ENSP00000447527.2:p.Asp81GlufsTer20
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.384_387delTAGA
  hgvsp: ENSP00000308021.7:p.Asp128GlufsTer34
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.384_387delTAGA
  hgvsp: ENSP00000448012.1:p.Asp128GlufsTer34
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.282_285delTAGA
  hgvsp: ENSP00000448573.2:p.Asp94GlufsTer34
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp128GlufsTer34
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CTCTA
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-88530477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530477
    reference: chr 12
allele count: 55
allele frequency: 4.559396501699411e-4
allele num: 120630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.243T>C
  hgvsp: ENST00000552770.2:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.384T>C
  hgvsp: ENST00000552810.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.384T>C
  hgvsp: ENST00000309041.7:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.282T>C
  hgvsp: ENST00000547926.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.384T>C
  hgvsp: ENST00000550962.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp128Asp
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-88530479-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530479
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530479
    reference: chr 12
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.280G>C
  hgvsp: ENSP00000448573.2:p.Asp94His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.382G>C
  hgvsp: ENSP00000308021.7:p.Asp128His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.382G>C
  hgvsp: ENSP00000447623.1:p.Asp128His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.382G>C
  hgvsp: ENSP00000448012.1:p.Asp128His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.241G>C
  hgvsp: ENSP00000447527.2:p.Asp81His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp128His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

12-88530482-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530482
    reference: chr 12
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.379A>C
  hgvsp: ENSP00000308021.7:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.238A>C
  hgvsp: ENSP00000447527.2:p.Lys80Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.379A>C
  hgvsp: ENSP00000448012.1:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.379A>C
  hgvsp: ENSP00000447623.1:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.277A>C
  hgvsp: ENSP00000448573.2:p.Lys93Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys127Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

12-88530484-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530484
    reference: chr 12
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.236A>T
  hgvsp: ENSP00000447527.2:p.Gln79Leu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.377A>T
  hgvsp: ENSP00000447623.1:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.377A>T
  hgvsp: ENSP00000448012.1:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.377A>T
  hgvsp: ENSP00000308021.7:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.275A>T
  hgvsp: ENSP00000448573.2:p.Gln92Leu
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln126Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-88530491-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530490
    reference: chr 12
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.228delA
  hgvsp: ENSP00000447527.2:p.Gln76HisfsTer2
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.267delA
  hgvsp: ENSP00000448573.2:p.Gln89HisfsTer2
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.369delA
  hgvsp: ENSP00000308021.7:p.Gln123HisfsTer2
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.369delA
  hgvsp: ENSP00000448012.1:p.Gln123HisfsTer2
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.369delA
  hgvsp: ENSP00000447623.1:p.Gln123HisfsTer2
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln123HisfsTer2
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: AT
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-88530494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530494
    reference: chr 12
allele count: 3
allele frequency: 2.488346245085516e-5
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.367C>T
  hgvsp: ENSP00000447623.1:p.Gln123Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.367C>T
  hgvsp: ENSP00000448012.1:p.Gln123Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.265C>T
  hgvsp: ENSP00000448573.2:p.Gln89Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.226C>T
  hgvsp: ENSP00000447527.2:p.Gln76Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.367C>T
  hgvsp: ENSP00000308021.7:p.Gln123Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln123Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-88530495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530495
    reference: chr 12
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.264A>G
  hgvsp: ENST00000547926.2:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.366A>G
  hgvsp: ENST00000309041.7:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.366A>G
  hgvsp: ENST00000552810.1:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.225A>G
  hgvsp: ENST00000552770.2:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.366A>G
  hgvsp: ENST00000550962.1:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys122Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-88530507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530507
    reference: chr 12
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.252C>T
  hgvsp: ENST00000547926.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.213C>T
  hgvsp: ENST00000552770.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.354C>T
  hgvsp: ENST00000552810.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.354C>T
  hgvsp: ENST00000550962.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.354C>T
  hgvsp: ENST00000309041.7:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys118Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

12-88530510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530510
    reference: chr 12
allele count: 2
allele frequency: 1.661847309469206e-5
allele num: 120348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.351T>C
  hgvsp: ENST00000550962.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.210T>C
  hgvsp: ENST00000552770.2:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.351T>C
  hgvsp: ENST00000552810.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.249T>C
  hgvsp: ENST00000547926.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.351T>C
  hgvsp: ENST00000309041.7:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile117Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-88530518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530518
    reference: chr 12
allele count: 37
allele frequency: 3.078151777840635e-4
allele num: 120202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.343A>G
  hgvsp: ENSP00000448012.1:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.241A>G
  hgvsp: ENSP00000448573.2:p.Asn81Asp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.343A>G
  hgvsp: ENSP00000447623.1:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.202A>G
  hgvsp: ENSP00000447527.2:p.Asn68Asp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.343A>G
  hgvsp: ENSP00000308021.7:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn115Asp
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-88530519-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530519
    reference: chr 12
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.342T>A
  hgvsp: ENST00000552810.1:c.342T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.240T>A
  hgvsp: ENST00000547926.2:c.240T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.201T>A
  hgvsp: ENST00000552770.2:c.201T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.342T>A
  hgvsp: ENST00000550962.1:c.342T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.342T>A
  hgvsp: ENST00000309041.7:c.342T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg114Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-88530520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530520
    reference: chr 12
allele count: 17
allele frequency: 1.415251415251415e-4
allele num: 120120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.200G>A
  hgvsp: ENSP00000447527.2:p.Arg67His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.341G>A
  hgvsp: ENSP00000448012.1:p.Arg114His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.239G>A
  hgvsp: ENSP00000448573.2:p.Arg80His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.341G>A
  hgvsp: ENSP00000308021.7:p.Arg114His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.341G>A
  hgvsp: ENSP00000447623.1:p.Arg114His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg114His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-88530521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530521
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530521
    reference: chr 12
allele count: 1
allele frequency: 8.326117364950376e-6
allele num: 120104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.340C>T
  hgvsp: ENSP00000308021.7:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.340C>T
  hgvsp: ENSP00000447623.1:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.238C>T
  hgvsp: ENSP00000448573.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.199C>T
  hgvsp: ENSP00000447527.2:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.340C>T
  hgvsp: ENSP00000448012.1:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg114Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-88530529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530529
    reference: chr 12
allele count: 6
allele frequency: 5.008932596463694e-5
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.332G>A
  hgvsp: ENSP00000308021.7:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.230G>A
  hgvsp: ENSP00000448573.2:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.191G>A
  hgvsp: ENSP00000447527.2:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.332G>A
  hgvsp: ENSP00000447623.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.332G>A
  hgvsp: ENSP00000448012.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg111Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88530532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530532
    reference: chr 12
allele count: 1
allele frequency: 8.356452852893003e-6
allele num: 119668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.227C>T
  hgvsp: ENSP00000448573.2:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.329C>T
  hgvsp: ENSP00000308021.7:p.Thr110Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.329C>T
  hgvsp: ENSP00000448012.1:p.Thr110Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.329C>T
  hgvsp: ENSP00000447623.1:p.Thr110Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.188C>T
  hgvsp: ENSP00000447527.2:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr110Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-88530533-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530533
    reference: chr 12
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.226A>C
  hgvsp: ENSP00000448573.2:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.328A>C
  hgvsp: ENSP00000448012.1:p.Thr110Pro
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.328A>C
  hgvsp: ENSP00000447623.1:p.Thr110Pro
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.328A>C
  hgvsp: ENSP00000308021.7:p.Thr110Pro
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.187A>C
  hgvsp: ENSP00000447527.2:p.Thr63Pro
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr110Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-88530538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88530538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88530538
    reference: chr 12
allele count: 1
allele frequency: 8.385041086701324e-6
allele num: 119260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448573
  ensembl transcript: ENST00000547926
  gene symbol: CEP290
  hgvsc: ENST00000547926.2:c.221G>A
  hgvsp: ENSP00000448573.2:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.323G>A
  hgvsp: ENSP00000448012.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.323G>A
  hgvsp: ENSP00000308021.7:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447527
  ensembl transcript: ENST00000552770
  gene symbol: CEP290
  hgvsc: ENST00000552770.2:c.182G>A
  hgvsp: ENSP00000447527.2:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000447623
  ensembl transcript: ENST00000550962
  gene symbol: CEP290
  hgvsc: ENST00000550962.1:c.323G>A
  hgvsp: ENSP00000447623.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg108Gln
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 865
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.0148849797023e-3
allele num: 5912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.214394e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.103e0

FS
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 2.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.204101249599487e-4
allele num: 6242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.193168e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 1431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.789375292101573e-5
allele num: 12838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.556e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.193829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.4786833234186e-5
allele num: 40344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.003e0

VQSLOD
type: SiteQuality
SIO_000300: -1.26e-2

DP
type: SiteQuality
SIO_000300: 1.166144e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.883948756593821e-4
allele num: 5308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.039e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

QD
type: SiteQuality
SIO_000300: 1.613e1

DP
type: SiteQuality
SIO_000300: 1.146389e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 9.428000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

GenotypeQuality
all individuals: 808
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.332e0

DP
type: SiteQuality
SIO_000300: 1.138059e6

VQSLOD
type: SiteQuality
SIO_000300: -1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

QD
type: SiteQuality
SIO_000300: 1.463e1

MQRankSum
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 2736
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.646062658763759e-5
allele num: 37792
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 1.588e1

DP
type: SiteQuality
SIO_000300: 1.12372e6

VQSLOD
type: SiteQuality
SIO_000300: -5.254e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 1766
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 367
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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: 4944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
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Latino
type: Population
allele count: 1
allele frequency: 2.016942315449778e-4
allele num: 4958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.092089e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.62e0

FS
type: SiteQuality
SIO_000300: 2.158e0

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 31669
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GenotypeQuality
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variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.851927903262605e-5
allele num: 35064
num of homozygotes: 0

African
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allele count: 2
allele frequency: 3.241491085899514e-4
allele num: 6170
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.583690987124464e-5
allele num: 11650
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 5.267593763168985e-3
allele num: 4746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.068177e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

QD
type: SiteQuality
SIO_000300: 1.224e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.885336718795083e-5
allele num: 34658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.275331338178709e-4
allele num: 4678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 8.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.062012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.645278051990786e-4
allele num: 6078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.066e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.050741e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
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Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.408477842003854e-4
allele num: 4152
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South Asian
type: Population
allele count: 1
allele frequency: 9.036688957166094e-5
allele num: 11066
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 9.93711e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.097e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.236245954692557e-4
allele num: 3090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.74251497005988e-5
allele num: 26720
num of homozygotes: 0

East 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: 428
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

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

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.966e0

DP
type: SiteQuality
SIO_000300: 9.04836e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19770
num of homozygotes: 0

East Asian
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South Asian
type: Population
allele count: 1
allele frequency: 1.104728236853734e-4
allele num: 9052
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.186721991701245e-4
allele num: 1928
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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MQ
type: SiteQuality
SIO_000300: 5.125e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 8.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1928
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 5.058168942842691e-5
allele num: 19770
num of homozygotes: 0

South Asian
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allele count: 0
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African
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East Asian
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Other
type: Population
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allele num: 354
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.22e-2

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.125e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

East Asian
type: Population
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allele num: 1600
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2334
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South Asian
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allele count: 0
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African
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allele num: 3452
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VQSLOD
type: SiteQuality
SIO_000300: -9.032e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.66363e5

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1738
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African
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12198
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MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.808e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.97289e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.633e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.02e1

DP
type: SiteQuality
SIO_000300: 8.11556e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.68640943720816e-4
allele num: 8138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 8.17833e5

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 1.2059e1

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1706
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.509762691498949e-5
allele num: 13316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.2059e1

DP
type: SiteQuality
SIO_000300: 8.17833e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4841
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13456
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.45398773006135e-4
allele num: 8150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 7.956e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 2011
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.492537313432836e-4
allele num: 13400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.407e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.465e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 7.82739e5

GenotypeQuality
all individuals: 14994
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.476076555023923e-5
allele num: 13376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

FS
type: SiteQuality
SIO_000300: 2.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.94e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 7.79878e5

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

Other
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: 2774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.237011380504701e-4
allele num: 8084
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.714858818083629e-5
allele num: 12962
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

DP
type: SiteQuality
SIO_000300: 7.60828e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 5.016e0

QD
type: SiteQuality
SIO_000300: 7.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

GenotypeQuality
all individuals: 315
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 41

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 494

East Asian
type: Population
allele count: 45
allele frequency: 7.867132867132867e-2
allele num: 572
num of homozygotes: 1

Other
type: Population
allele count: 8
allele frequency: 4.0e-2
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.307709802137821e-2
allele num: 8794
num of homozygotes: 0

African
type: Population
allele count: 75
allele frequency: 3.498134328358209e-2
allele num: 2144
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 7
allele frequency: 5.287009063444109e-3
allele num: 1324
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 4.26829268292683e-2
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 453
allele frequency: 7.238734419942473e-2
allele num: 6258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.956e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 7.68165e5

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
all individuals: 669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.748251748251748e-3
allele num: 572
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.065040650406504e-3
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.552870090634441e-4
allele num: 1324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.664179104477612e-4
allele num: 2144
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.793863854266539e-4
allele num: 6258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.956e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 7.68165e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

GenotypeQuality
all individuals: 669
bin: 6.75e1
variant carriers: 111

GenotypeQuality
all individuals: 1687
bin: 6.25e1
variant carriers: 203

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 1781

Other
type: Population
allele count: 37
allele frequency: 1.85e-1
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 3.021148036253776e-3
allele num: 1324
num of homozygotes: 0

South Asian
type: Population
allele count: 2096
allele frequency: 3.349312879514222e-1
allele num: 6258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1265
allele frequency: 1.438480782351603e-1
allele num: 8794
num of homozygotes: 0

Latino
type: Population
allele count: 53
allele frequency: 1.077235772357724e-1
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 108
allele frequency: 5.037313432835821e-2
allele num: 2144
num of homozygotes: 0

East Asian
type: Population
allele count: 70
allele frequency: 1.223776223776224e-1
allele num: 572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 7.68165e5

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.956e-1

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

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.137138958380714e-4
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.956e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

DP
type: SiteQuality
SIO_000300: 7.68165e5

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.99e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.956e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 7.68165e5

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 4.32602e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.225e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 8.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 5.581395348837209e-4
allele num: 10750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.31e-2

DP
type: SiteQuality
SIO_000300: 6.72484e5

FS
type: SiteQuality
SIO_000300: 5.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.505637684790779e-4
allele num: 7982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

DP
type: SiteQuality
SIO_000300: 6.63474e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.595e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.314e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 5231
bin: 6.25e1
variant carriers: 49

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 73

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 27

South Asian
type: Population
allele count: 135
allele frequency: 1.691305437233776e-2
allele num: 7982
num of homozygotes: 3

Latino
type: Population
allele count: 8
allele frequency: 1.234567901234568e-2
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 234
allele frequency: 9.677419354838709e-2
allele num: 2418
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 35
allele frequency: 2.176616915422886e-2
allele num: 1608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 376
allele frequency: 3.527866391443048e-2
allele num: 10658
num of homozygotes: 8

Other
type: Population
allele count: 10
allele frequency: 4.0e-2
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 2.259036144578313e-2
allele num: 664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.63474e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.595e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

GenotypeQuality
all individuals: 433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.382623381497467e-5
allele num: 10658
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.595e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 6.63474e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.582215408202377e-5
allele num: 10436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.59e-2

DP
type: SiteQuality
SIO_000300: 6.46814e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 3.835e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5418
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.839e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

DP
type: SiteQuality
SIO_000300: 6.46322e5

QD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 431
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

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

South Asian
type: Population
allele count: 30
allele frequency: 3.87997930677703e-3
allele num: 7732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.06e-2

QD
type: SiteQuality
SIO_000300: 3.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 6.42553e5

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

FS
type: SiteQuality
SIO_000300: 4.285e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 649
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.036484245439469e-4
allele num: 9648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.802e1

FS
type: SiteQuality
SIO_000300: 8.807e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

DP
type: SiteQuality
SIO_000300: 6.18884e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

GenotypeQuality
all individuals: 5597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.966887417218543e-3
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.036484245439469e-4
allele num: 9648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.18884e5

MQ
type: SiteQuality
SIO_000300: 5.802e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

FS
type: SiteQuality
SIO_000300: 8.807e0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: -2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.72e-2

DP
type: SiteQuality
SIO_000300: 5.62215e5

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
all individuals: 1413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.31891321551042e-4
allele num: 7582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.56399e5

MQ
type: SiteQuality
SIO_000300: 5.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.719999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 5.33e0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.188118811881188e-4
allele num: 1616
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.021e-1

DP
type: SiteQuality
SIO_000300: 5.56202e5

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 2.089e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-5
allele num: 65600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.825037e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

GenotypeQuality
all individuals: 900
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.840758e6

FS
type: SiteQuality
SIO_000300: 4.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
SIO_000300: -4.117e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.006e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -5.471e0

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

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.619629758994062e-4
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.84451e6

FS
type: SiteQuality
SIO_000300: 2.688e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
all individuals: 1248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.030927835051546e-4
allele num: 9700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 1.847164e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 1259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7086
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.058884084826024e-4
allele num: 9714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

DP
type: SiteQuality
SIO_000300: 1.851483e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

QD
type: SiteQuality
SIO_000300: 1.597e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

GenotypeQuality
all individuals: 616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.547397657287767e-5
allele num: 66248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.459e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.289e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 1.853143e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 1722
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.858911e6

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.556e0

FS
type: SiteQuality
SIO_000300: 6.401e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

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

GenotypeQuality
all individuals: 865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 2.307e0

DP
type: SiteQuality
SIO_000300: 1.861077e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
all individuals: 40406
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4818
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 3

African
type: Population
allele count: 5
allele frequency: 5.142974696564493e-4
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 8.811375789985415e-4
allele num: 65824
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.522987493394399e-4
allele num: 11354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.232589670898558e-4
allele num: 16226
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.697040864255519e-4
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 2.013715e6

QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1579
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.848884506347837e-4
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.596013612056393e-5
allele num: 65824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 2.013715e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057636447026449e-5
allele num: 65410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.946875e6

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
all individuals: 1100
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 3.229e0

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

DP
type: SiteQuality
SIO_000300: 1.860478e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 1.861426e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42251
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.104124132298898e-4
allele num: 9796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.861458e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 42212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.73e0

FS
type: SiteQuality
SIO_000300: 5.233e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

VQSLOD
type: SiteQuality
SIO_000300: -1.994e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.860405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 9.75e1
variant carriers: 7

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997390756680563e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.091e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.772e1

DP
type: SiteQuality
SIO_000300: 1.860489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.123e0

FS
type: SiteQuality
SIO_000300: 1.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 49
allele frequency: 5.681818181818182e-3
allele num: 8624
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.029201502483945e-4
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 1.234e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

DP
type: SiteQuality
SIO_000300: 1.863885e6

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.859721e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

FS
type: SiteQuality
SIO_000300: 2.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.931e0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.753e1

VQSLOD
type: SiteQuality
SIO_000300: -5.685e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.859302e6

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

FS
type: SiteQuality
SIO_000300: 3.924e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.858984e6

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.526e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 1.858381e6

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

MQ
type: SiteQuality
SIO_000300: 6.042e1

GenotypeQuality
all individuals: 5145
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.414e0

DP
type: SiteQuality
SIO_000300: 1.858332e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.074e0

DP
type: SiteQuality
SIO_000300: 1.858239e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 4.96e1

MQRankSum
type: SiteQuality
SIO_000300: -1.364e0

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.888e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.624e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.85735e6

GenotypeQuality
all individuals: 5133
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.328288707799767e-4
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

FS
type: SiteQuality
SIO_000300: 1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

DP
type: SiteQuality
SIO_000300: 1.856332e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.05e-1

GenotypeQuality
all individuals: 7162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 9.75e1
variant carriers: 36

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

GenotypeQuality
all individuals: 41845
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 36
allele frequency: 4.197761194029851e-3
allele num: 8576
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.855294e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5109
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.809e1

DP
type: SiteQuality
SIO_000300: 1.852963e6

MQ
type: SiteQuality
SIO_000300: 4.544e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5114
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.637331150225133e-3
allele num: 9772
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.853065e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

GenotypeQuality
all individuals: 1621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.571e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 1.852175e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5100
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 41391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.427773731488225e-4
allele num: 16476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

FS
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

DP
type: SiteQuality
SIO_000300: 1.846417e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.844087e6

QD
type: SiteQuality
SIO_000300: 1.407e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.284e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

DP
type: SiteQuality
SIO_000300: 1.84304e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.615e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.651e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1