1-197404554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404554
    reference: chr 1
allele count: 2
allele frequency: 1.729535273871911e-5
allele num: 115638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1704C>T
  hgvsp: ENST00000367397.1:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2004C>T
  hgvsp: ENST00000544212.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3561C>T
  hgvsp: ENST00000367400.3:c.3561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3489C>T
  hgvsp: ENST00000535699.1:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3561C>T
  hgvsp: ENST00000484075.1:c.3561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-176C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3225C>T
  hgvsp: ENST00000367399.2:c.3225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile1187Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

1-197404557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404557
    reference: chr 1
allele count: 2
allele frequency: 1.732261640798226e-5
allele num: 115456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-173T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2007T>C
  hgvsp: ENST00000544212.1:c.2007T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3492T>C
  hgvsp: ENST00000535699.1:c.3492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3228T>C
  hgvsp: ENST00000367399.2:c.3228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3564T>C
  hgvsp: ENST00000484075.1:c.3564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1707T>C
  hgvsp: ENST00000367397.1:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3564T>C
  hgvsp: ENST00000367400.3:c.3564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45540
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1188His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-197404583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404583
    reference: chr 1
allele count: 1
allele frequency: 8.725242125468982e-6
allele num: 114610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3518C>T
  hgvsp: ENSP00000438786.1:p.Ala1173Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2033C>T
  hgvsp: ENSP00000444556.1:p.Ala678Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3590C>T
  hgvsp: ENSP00000433932.1:p.Ala1197Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3254C>T
  hgvsp: ENSP00000356369.2:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3590C>T
  hgvsp: ENSP00000356370.3:p.Ala1197Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1733C>T
  hgvsp: ENSP00000356367.1:p.Ala578Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-147C>T
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1197Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-197404589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404589
    reference: chr 1
allele count: 2
allele frequency: 1.742129928050034e-5
allele num: 114802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3524A>G
  hgvsp: ENSP00000438786.1:p.His1175Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3596A>G
  hgvsp: ENSP00000433932.1:p.His1199Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2039A>G
  hgvsp: ENSP00000444556.1:p.His680Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3260A>G
  hgvsp: ENSP00000356369.2:p.His1087Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1739A>G
  hgvsp: ENSP00000356367.1:p.His580Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-141A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3596A>G
  hgvsp: ENSP00000356370.3:p.His1199Arg
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1199Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-197404596-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404596
    reference: chr 1
allele count: 1
allele frequency: 8.703068702024334e-6
allele num: 114902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3603A>T
  hgvsp: ENST00000484075.1:c.3603A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1746A>T
  hgvsp: ENST00000367397.1:c.1746A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2046A>T
  hgvsp: ENST00000544212.1:c.2046A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-134A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3531A>T
  hgvsp: ENST00000535699.1:c.3531A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3603A>T
  hgvsp: ENST00000367400.3:c.3603A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3267A>T
  hgvsp: ENST00000367399.2:c.3267A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1201Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-197404603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404603
    reference: chr 1
allele count: 1
allele frequency: 8.710042679209128e-6
allele num: 114810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3274C>T
  hgvsp: ENSP00000356369.2:p.Pro1092Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1753C>T
  hgvsp: ENSP00000356367.1:p.Pro585Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3610C>T
  hgvsp: ENSP00000356370.3:p.Pro1204Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3538C>T
  hgvsp: ENSP00000438786.1:p.Pro1180Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3610C>T
  hgvsp: ENSP00000433932.1:p.Pro1204Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2053C>T
  hgvsp: ENSP00000444556.1:p.Pro685Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-127C>T
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1204Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-197404606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404606
    reference: chr 1
allele count: 1
allele frequency: 8.700342793506064e-6
allele num: 114938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2056G>A
  hgvsp: ENSP00000444556.1:p.Gly686Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3613G>A
  hgvsp: ENSP00000356370.3:p.Gly1205Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1756G>A
  hgvsp: ENSP00000356367.1:p.Gly586Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3541G>A
  hgvsp: ENSP00000438786.1:p.Gly1181Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3613G>A
  hgvsp: ENSP00000433932.1:p.Gly1205Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-124G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3277G>A
  hgvsp: ENSP00000356369.2:p.Gly1093Arg
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45568
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1205Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-197404616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404616
    reference: chr 1
allele count: 1
allele frequency: 8.680555555555556e-6
allele num: 115200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3623G>A
  hgvsp: ENSP00000356370.3:p.Gly1208Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3287G>A
  hgvsp: ENSP00000356369.2:p.Gly1096Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3623G>A
  hgvsp: ENSP00000433932.1:p.Gly1208Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3551G>A
  hgvsp: ENSP00000438786.1:p.Gly1184Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2066G>A
  hgvsp: ENSP00000444556.1:p.Gly689Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-114G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1766G>A
  hgvsp: ENSP00000356367.1:p.Gly589Asp
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1208Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-197404617-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404617
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 115202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3624T>A
  hgvsp: ENST00000484075.1:c.3624T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3624T>A
  hgvsp: ENST00000367400.3:c.3624T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3552T>A
  hgvsp: ENST00000535699.1:c.3552T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2067T>A
  hgvsp: ENST00000544212.1:c.2067T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-113T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3288T>A
  hgvsp: ENST00000367399.2:c.3288T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1767T>A
  hgvsp: ENST00000367397.1:c.1767T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1208Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-197404617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404617
    reference: chr 1
allele count: 4
allele frequency: 3.472161941632958e-5
allele num: 115202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3288T>C
  hgvsp: ENST00000367399.2:c.3288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3624T>C
  hgvsp: ENST00000484075.1:c.3624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-113T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1767T>C
  hgvsp: ENST00000367397.1:c.1767T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3552T>C
  hgvsp: ENST00000535699.1:c.3552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2067T>C
  hgvsp: ENST00000544212.1:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3624T>C
  hgvsp: ENST00000367400.3:c.3624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1208Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

1-197404618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404618
    reference: chr 1
allele count: 4
allele frequency: 3.470836298006004e-5
allele num: 115246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3289G>A
  hgvsp: ENSP00000356369.2:p.Val1097Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3625G>A
  hgvsp: ENSP00000433932.1:p.Val1209Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2068G>A
  hgvsp: ENSP00000444556.1:p.Val690Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1768G>A
  hgvsp: ENSP00000356367.1:p.Val590Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3625G>A
  hgvsp: ENSP00000356370.3:p.Val1209Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3553G>A
  hgvsp: ENSP00000438786.1:p.Val1185Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-112G>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1209Met
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-197404630-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404630
    reference: chr 1
allele count: 1
allele frequency: 8.640951195907645e-6
allele num: 115728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2080G>C
  hgvsp: ENSP00000444556.1:p.Val694Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-100G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3637G>C
  hgvsp: ENSP00000356370.3:p.Val1213Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1780G>C
  hgvsp: ENSP00000356367.1:p.Val594Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3637G>C
  hgvsp: ENSP00000433932.1:p.Val1213Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3301G>C
  hgvsp: ENSP00000356369.2:p.Val1101Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3565G>C
  hgvsp: ENSP00000438786.1:p.Val1189Leu
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1213Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-197404633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404633
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404633
    reference: chr 1
allele count: 1
allele frequency: 8.63155350700019e-6
allele num: 115854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3304G>A
  hgvsp: ENSP00000356369.2:p.Asp1102Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3640G>A
  hgvsp: ENSP00000433932.1:p.Asp1214Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3568G>A
  hgvsp: ENSP00000438786.1:p.Asp1190Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1783G>A
  hgvsp: ENSP00000356367.1:p.Asp595Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3640G>A
  hgvsp: ENSP00000356370.3:p.Asp1214Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2083G>A
  hgvsp: ENSP00000444556.1:p.Asp695Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-97G>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31294
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1214Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-197404636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404636
    reference: chr 1
allele count: 1
allele frequency: 8.618609301203158e-6
allele num: 116028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2086A>G
  hgvsp: ENSP00000444556.1:p.Ile696Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1786A>G
  hgvsp: ENSP00000356367.1:p.Ile596Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-94A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3643A>G
  hgvsp: ENSP00000356370.3:p.Ile1215Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3307A>G
  hgvsp: ENSP00000356369.2:p.Ile1103Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3571A>G
  hgvsp: ENSP00000438786.1:p.Ile1191Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3643A>G
  hgvsp: ENSP00000433932.1:p.Ile1215Val
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1215Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-197404638-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404638
    reference: chr 1
allele count: 1
allele frequency: 8.610891055006372e-6
allele num: 116132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2088A>G
  hgvsp: ENSP00000444556.1:p.Ile696Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3645A>G
  hgvsp: ENSP00000433932.1:p.Ile1215Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3309A>G
  hgvsp: ENSP00000356369.2:p.Ile1103Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3645A>G
  hgvsp: ENSP00000356370.3:p.Ile1215Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-92A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1788A>G
  hgvsp: ENSP00000356367.1:p.Ile596Met
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3573A>G
  hgvsp: ENSP00000438786.1:p.Ile1191Met
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31554
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1215Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-197404644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404644
    reference: chr 1
allele count: 1
allele frequency: 8.579272477693891e-6
allele num: 116560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2094C>T
  hgvsp: ENST00000544212.1:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3651C>T
  hgvsp: ENST00000367400.3:c.3651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3651C>T
  hgvsp: ENST00000484075.1:c.3651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3579C>T
  hgvsp: ENST00000535699.1:c.3579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3315C>T
  hgvsp: ENST00000367399.2:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1794C>T
  hgvsp: ENST00000367397.1:c.1794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-86C>T
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1217Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-197404663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404663
    reference: chr 1
allele count: 1
allele frequency: 8.475438180153914e-6
allele num: 117988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3598G>A
  hgvsp: ENSP00000438786.1:p.Ala1200Thr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-67G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3670G>A
  hgvsp: ENSP00000356370.3:p.Ala1224Thr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3670G>A
  hgvsp: ENSP00000433932.1:p.Ala1224Thr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2113G>A
  hgvsp: ENSP00000444556.1:p.Ala705Thr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3334G>A
  hgvsp: ENSP00000356369.2:p.Ala1112Thr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1813G>A
  hgvsp: ENSP00000356367.1:p.Ala605Thr
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1224Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-197404669-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404669
    reference: chr 1
allele count: 2
allele frequency: 1.693537461048639e-5
allele num: 118096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1819G>T
  hgvsp: ENSP00000356367.1:p.Gly607Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3676G>T
  hgvsp: ENSP00000356370.3:p.Gly1226Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3340G>T
  hgvsp: ENSP00000356369.2:p.Gly1114Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3676G>T
  hgvsp: ENSP00000433932.1:p.Gly1226Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2119G>T
  hgvsp: ENSP00000444556.1:p.Gly707Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3604G>T
  hgvsp: ENSP00000438786.1:p.Gly1202Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-61G>T
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1226Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-197404676-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404676
    reference: chr 1
allele count: 3
allele frequency: 2.538758377902647e-5
allele num: 118168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3683C>A
  hgvsp: ENSP00000433932.1:p.Thr1228Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3611C>A
  hgvsp: ENSP00000438786.1:p.Thr1204Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2126C>A
  hgvsp: ENSP00000444556.1:p.Thr709Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-54C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1826C>A
  hgvsp: ENSP00000356367.1:p.Thr609Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3683C>A
  hgvsp: ENSP00000356370.3:p.Thr1228Asn
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3347C>A
  hgvsp: ENSP00000356369.2:p.Thr1116Asn
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1228Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

1-197404676-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404676
    reference: chr 1
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2126C>G
  hgvsp: ENSP00000444556.1:p.Thr709Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3683C>G
  hgvsp: ENSP00000356370.3:p.Thr1228Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3611C>G
  hgvsp: ENSP00000438786.1:p.Thr1204Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3347C>G
  hgvsp: ENSP00000356369.2:p.Thr1116Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3683C>G
  hgvsp: ENSP00000433932.1:p.Thr1228Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1826C>G
  hgvsp: ENSP00000356367.1:p.Thr609Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-54C>G
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1228Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-197404688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404688
    reference: chr 1
allele count: 52
allele frequency: 4.439663268616703e-4
allele num: 117126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-42A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1838A>G
  hgvsp: ENSP00000356367.1:p.His613Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2138A>G
  hgvsp: ENSP00000444556.1:p.His713Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3695A>G
  hgvsp: ENSP00000433932.1:p.His1232Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3695A>G
  hgvsp: ENSP00000356370.3:p.His1232Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3623A>G
  hgvsp: ENSP00000438786.1:p.His1208Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3359A>G
  hgvsp: ENSP00000356369.2:p.His1120Arg
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19587
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31689
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His1232Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-197404692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404692
    reference: chr 1
allele count: 1
allele frequency: 8.595643727758772e-6
allele num: 116338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3363T>C
  hgvsp: ENST00000367399.2:c.3363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3627T>C
  hgvsp: ENST00000535699.1:c.3627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3699T>C
  hgvsp: ENST00000484075.1:c.3699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2142T>C
  hgvsp: ENST00000544212.1:c.2142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3699T>C
  hgvsp: ENST00000367400.3:c.3699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-38T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1842T>C
  hgvsp: ENST00000367397.1:c.1842T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1233Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-197404695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404695
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404695
    reference: chr 1
allele count: 2
allele frequency: 1.734394782940493e-5
allele num: 115314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3702T>C
  hgvsp: ENST00000484075.1:c.3702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-35T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2145T>C
  hgvsp: ENST00000544212.1:c.2145T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3366T>C
  hgvsp: ENST00000367399.2:c.3366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3702T>C
  hgvsp: ENST00000367400.3:c.3702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1845T>C
  hgvsp: ENST00000367397.1:c.1845T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3630T>C
  hgvsp: ENST00000535699.1:c.3630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1234Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-197404705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404705
    reference: chr 1
allele count: 1
allele frequency: 8.900756564307967e-6
allele num: 112350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3376T>C
  hgvsp: ENSP00000356369.2:p.Cys1126Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3640T>C
  hgvsp: ENSP00000438786.1:p.Cys1214Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1855T>C
  hgvsp: ENSP00000356367.1:p.Cys619Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2155T>C
  hgvsp: ENSP00000444556.1:p.Cys719Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3712T>C
  hgvsp: ENSP00000433932.1:p.Cys1238Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-25T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3712T>C
  hgvsp: ENSP00000356370.3:p.Cys1238Arg
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28619
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41262
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys1238Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-197404710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404710
    reference: chr 1
allele count: 1
allele frequency: 9.059448098421843e-6
allele num: 110382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3381C>T
  hgvsp: ENST00000367399.2:c.3381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3717C>T
  hgvsp: ENST00000484075.1:c.3717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-20C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1860C>T
  hgvsp: ENST00000367397.1:c.1860C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3645C>T
  hgvsp: ENST00000535699.1:c.3645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3717C>T
  hgvsp: ENST00000367400.3:c.3717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2160C>T
  hgvsp: ENST00000544212.1:c.2160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1239Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-197404720-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404720
    reference: chr 1
allele count: 2
allele frequency: 1.897065240073606e-5
allele num: 105426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3391A>C
  hgvsp: ENSP00000356369.2:p.Asn1131His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3727A>C
  hgvsp: ENSP00000356370.3:p.Asn1243His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2170A>C
  hgvsp: ENSP00000444556.1:p.Asn724His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3727A>C
  hgvsp: ENSP00000433932.1:p.Asn1243His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3655A>C
  hgvsp: ENSP00000438786.1:p.Asn1219His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1870A>C
  hgvsp: ENSP00000356367.1:p.Asn624His
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1243His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-197404722-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404722
    reference: chr 1
allele count: 1
allele frequency: 9.57047699257331e-6
allele num: 104488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-8T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3729T>G
  hgvsp: ENSP00000433932.1:p.Asn1243Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3729T>G
  hgvsp: ENSP00000356370.3:p.Asn1243Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1872T>G
  hgvsp: ENSP00000356367.1:p.Asn624Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3393T>G
  hgvsp: ENSP00000356369.2:p.Asn1131Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2172T>G
  hgvsp: ENSP00000444556.1:p.Asn724Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3657T>G
  hgvsp: ENSP00000438786.1:p.Asn1219Lys
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1243Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-197404724-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404724
    reference: chr 1
allele count: 1
allele frequency: 9.663516360333198e-6
allele num: 103482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3659T>G
  hgvsp: ENSP00000438786.1:p.Phe1220Cys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2129-6T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2174T>G
  hgvsp: ENSP00000444556.1:p.Phe725Cys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3395T>G
  hgvsp: ENSP00000356369.2:p.Phe1132Cys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3731T>G
  hgvsp: ENSP00000433932.1:p.Phe1244Cys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3731T>G
  hgvsp: ENSP00000356370.3:p.Phe1244Cys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1874T>G
  hgvsp: ENSP00000356367.1:p.Phe625Cys
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe1244Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-197404747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404747
    reference: chr 1
allele count: 1
allele frequency: 1.114230957792931e-5
allele num: 89748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+5G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+5G>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3749+5G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-197404755-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404755
    reference: chr 1
allele count: 1
allele frequency: 1.16230415175043e-5
allele num: 86036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+13T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+13T>C
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

1-197404765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404765
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404765
    reference: chr 1
allele count: 1
allele frequency: 1.241588239676194e-5
allele num: 80542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+23G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+23G>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22461
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16517
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-197404770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404770
    reference: chr 1
allele count: 225
allele frequency: 2.93572714699512e-3
allele num: 76642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+28G>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+28G>T
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22058
  bin: 1.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27113
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.75e1
  variant carriers: 222
genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-197404774-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404774
    reference: chr 1
allele count: 1
allele frequency: 1.357662647985229e-5
allele num: 73656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+32T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+32T>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-197404783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404783
    reference: chr 1
allele count: 1
allele frequency: 1.494723625601626e-5
allele num: 66902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+41T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+41T>C
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

1-197404789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197404789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197404789
    reference: chr 1
allele count: 1
allele frequency: 1.628346251546929e-5
allele num: 61412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1892+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3749+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2192+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3413+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3677+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2141+47G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3749+47G>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-197407643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407643
    reference: chr 1
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-400A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-34T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-34T>C
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34391
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-197407661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407661
    reference: chr 1
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-16G>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-418C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-197407664-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407664
    reference: chr 1
allele count: 7
allele frequency: 5.782447792757071e-5
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-421A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-13T>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-13T>A
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-197407667-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407667
    reference: chr 1
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-10A>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-424T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-10A>C
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-197407674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407674
    reference: chr 1
allele count: 44
allele frequency: 3.633240850838948e-4
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-431A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-3T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-3T>C
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3750-3T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-197407675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407675
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3750-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1893-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3678-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2193-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3414-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-432T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2142-2A>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3750-2A>G
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3750-2A>G
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-197407679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407679
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-436T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3752A>G
  hgvsp: ENSP00000433932.1:p.Gln1251Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3752A>G
  hgvsp: ENSP00000356370.3:p.Gln1251Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3416A>G
  hgvsp: ENSP00000356369.2:p.Gln1139Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2195A>G
  hgvsp: ENSP00000444556.1:p.Gln732Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2144A>G
  hgvsp: ENSP00000438091.1:p.Gln715Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1895A>G
  hgvsp: ENSP00000356367.1:p.Gln632Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3680A>G
  hgvsp: ENSP00000438786.1:p.Gln1227Arg
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1251Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-197407685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407685
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2201G>A
  hgvsp: ENSP00000444556.1:p.Arg734Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3758G>A
  hgvsp: ENSP00000433932.1:p.Arg1253Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1901G>A
  hgvsp: ENSP00000356367.1:p.Arg634Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-442C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3758G>A
  hgvsp: ENSP00000356370.3:p.Arg1253Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3422G>A
  hgvsp: ENSP00000356369.2:p.Arg1141Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3686G>A
  hgvsp: ENSP00000438786.1:p.Arg1229Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2150G>A
  hgvsp: ENSP00000438091.1:p.Arg717Lys
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1253Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-197407690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407690
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2206C>T
  hgvsp: ENSP00000444556.1:p.Pro736Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-447G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3763C>T
  hgvsp: ENSP00000433932.1:p.Pro1255Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3691C>T
  hgvsp: ENSP00000438786.1:p.Pro1231Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2155C>T
  hgvsp: ENSP00000438091.1:p.Pro719Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3763C>T
  hgvsp: ENSP00000356370.3:p.Pro1255Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1906C>T
  hgvsp: ENSP00000356367.1:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3427C>T
  hgvsp: ENSP00000356369.2:p.Pro1143Ser
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1255Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-197407710-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407710
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3783T>A
  hgvsp: ENSP00000433932.1:p.Asn1261Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2226T>A
  hgvsp: ENSP00000444556.1:p.Asn742Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3711T>A
  hgvsp: ENSP00000438786.1:p.Asn1237Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1926T>A
  hgvsp: ENSP00000356367.1:p.Asn642Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3447T>A
  hgvsp: ENSP00000356369.2:p.Asn1149Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.411-467A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3783T>A
  hgvsp: ENSP00000356370.3:p.Asn1261Lys
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2175T>A
  hgvsp: ENSP00000438091.1:p.Asn725Lys
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1261Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-197407727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407727
    reference: chr 1
allele count: 8
allele frequency: 6.600551146020693e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3464C>T
  hgvsp: ENSP00000356369.2:p.Thr1155Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3800C>T
  hgvsp: ENSP00000356370.3:p.Thr1267Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3800C>T
  hgvsp: ENSP00000433932.1:p.Thr1267Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1943C>T
  hgvsp: ENSP00000356367.1:p.Thr648Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2243C>T
  hgvsp: ENSP00000444556.1:p.Thr748Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3728C>T
  hgvsp: ENSP00000438786.1:p.Thr1243Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2192C>T
  hgvsp: ENSP00000438091.1:p.Thr731Ile
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+477G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1267Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-197407732-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407732
    reference: chr 1
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1948T>C
  hgvsp: ENSP00000356367.1:p.Tyr650His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2197T>C
  hgvsp: ENSP00000438091.1:p.Tyr733His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3805T>C
  hgvsp: ENSP00000433932.1:p.Tyr1269His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3805T>C
  hgvsp: ENSP00000356370.3:p.Tyr1269His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3469T>C
  hgvsp: ENSP00000356369.2:p.Tyr1157His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+472A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2248T>C
  hgvsp: ENSP00000444556.1:p.Tyr750His
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3733T>C
  hgvsp: ENSP00000438786.1:p.Tyr1245His
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr1269His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-197407736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407736
    reference: chr 1
allele count: 8
allele frequency: 6.599026643570073e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2252A>G
  hgvsp: ENSP00000444556.1:p.Asn751Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3737A>G
  hgvsp: ENSP00000438786.1:p.Asn1246Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3809A>G
  hgvsp: ENSP00000356370.3:p.Asn1270Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1952A>G
  hgvsp: ENSP00000356367.1:p.Asn651Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2201A>G
  hgvsp: ENSP00000438091.1:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3809A>G
  hgvsp: ENSP00000433932.1:p.Asn1270Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3473A>G
  hgvsp: ENSP00000356369.2:p.Asn1158Ser
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+468T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1270Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-197407737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407737
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2253T>C
  hgvsp: ENST00000544212.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1953T>C
  hgvsp: ENST00000367397.1:c.1953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2202T>C
  hgvsp: ENST00000538660.1:c.2202T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3738T>C
  hgvsp: ENST00000535699.1:c.3738T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3474T>C
  hgvsp: ENST00000367399.2:c.3474T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+467A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3810T>C
  hgvsp: ENST00000367400.3:c.3810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3810T>C
  hgvsp: ENST00000484075.1:c.3810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1270Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-197407748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407748
    reference: chr 1
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1964G>A
  hgvsp: ENSP00000356367.1:p.Cys655Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2264G>A
  hgvsp: ENSP00000444556.1:p.Cys755Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+456C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3821G>A
  hgvsp: ENSP00000433932.1:p.Cys1274Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3821G>A
  hgvsp: ENSP00000356370.3:p.Cys1274Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3485G>A
  hgvsp: ENSP00000356369.2:p.Cys1162Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3749G>A
  hgvsp: ENSP00000438786.1:p.Cys1250Tyr
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2213G>A
  hgvsp: ENSP00000438091.1:p.Cys738Tyr
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys1274Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

1-197407750-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407750
    reference: chr 1
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2266A>G
  hgvsp: ENSP00000444556.1:p.Thr756Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2215A>G
  hgvsp: ENSP00000438091.1:p.Thr739Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3823A>G
  hgvsp: ENSP00000356370.3:p.Thr1275Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3751A>G
  hgvsp: ENSP00000438786.1:p.Thr1251Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3487A>G
  hgvsp: ENSP00000356369.2:p.Thr1163Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+454T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3823A>G
  hgvsp: ENSP00000433932.1:p.Thr1275Ala
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1966A>G
  hgvsp: ENSP00000356367.1:p.Thr656Ala
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr1275Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-197407750-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407750
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+454T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2215A>C
  hgvsp: ENSP00000438091.1:p.Thr739Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3751A>C
  hgvsp: ENSP00000438786.1:p.Thr1251Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3823A>C
  hgvsp: ENSP00000356370.3:p.Thr1275Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3823A>C
  hgvsp: ENSP00000433932.1:p.Thr1275Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3487A>C
  hgvsp: ENSP00000356369.2:p.Thr1163Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1966A>C
  hgvsp: ENSP00000356367.1:p.Thr656Pro
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2266A>C
  hgvsp: ENSP00000444556.1:p.Thr756Pro
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr1275Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-197407751-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407751
    reference: chr 1
allele count: 11
allele frequency: 9.072763563781528e-5
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3488C>G
  hgvsp: ENSP00000356369.2:p.Thr1163Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3824C>G
  hgvsp: ENSP00000433932.1:p.Thr1275Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2216C>G
  hgvsp: ENSP00000438091.1:p.Thr739Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3824C>G
  hgvsp: ENSP00000356370.3:p.Thr1275Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3752C>G
  hgvsp: ENSP00000438786.1:p.Thr1251Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1967C>G
  hgvsp: ENSP00000356367.1:p.Thr656Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2267C>G
  hgvsp: ENSP00000444556.1:p.Thr756Arg
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+453G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1275Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-197407754-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407754
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3755A>T
  hgvsp: ENSP00000438786.1:p.Glu1252Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1970A>T
  hgvsp: ENSP00000356367.1:p.Glu657Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2270A>T
  hgvsp: ENSP00000444556.1:p.Glu757Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3827A>T
  hgvsp: ENSP00000356370.3:p.Glu1276Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3491A>T
  hgvsp: ENSP00000356369.2:p.Glu1164Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3827A>T
  hgvsp: ENSP00000433932.1:p.Glu1276Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+450T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2219A>T
  hgvsp: ENSP00000438091.1:p.Glu740Val
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1276Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-197407770-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407770
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1986A>C
  hgvsp: ENSP00000356367.1:p.Leu662Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3771A>C
  hgvsp: ENSP00000438786.1:p.Leu1257Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3507A>C
  hgvsp: ENSP00000356369.2:p.Leu1169Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2235A>C
  hgvsp: ENSP00000438091.1:p.Leu745Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3843A>C
  hgvsp: ENSP00000433932.1:p.Leu1281Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3843A>C
  hgvsp: ENSP00000356370.3:p.Leu1281Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2286A>C
  hgvsp: ENSP00000444556.1:p.Leu762Phe
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+434T>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34380
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1281Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-197407777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407777
    reference: chr 1
allele count: 4
allele frequency: 3.299839957762049e-5
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3514A>G
  hgvsp: ENSP00000356369.2:p.Met1172Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3850A>G
  hgvsp: ENSP00000356370.3:p.Met1284Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3850A>G
  hgvsp: ENSP00000433932.1:p.Met1284Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2242A>G
  hgvsp: ENSP00000438091.1:p.Met748Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2293A>G
  hgvsp: ENSP00000444556.1:p.Met765Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3778A>G
  hgvsp: ENSP00000438786.1:p.Met1260Val
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+427T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1993A>G
  hgvsp: ENSP00000356367.1:p.Met665Val
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34382
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met1284Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-197407783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407783
    reference: chr 1
allele count: 5
allele frequency: 4.12609341475491e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+421G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3784C>T
  hgvsp: ENSP00000438786.1:p.Arg1262Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3856C>T
  hgvsp: ENSP00000433932.1:p.Arg1286Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3520C>T
  hgvsp: ENSP00000356369.2:p.Arg1174Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2248C>T
  hgvsp: ENSP00000438091.1:p.Arg750Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2299C>T
  hgvsp: ENSP00000444556.1:p.Arg767Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.1999C>T
  hgvsp: ENSP00000356367.1:p.Arg667Trp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3856C>T
  hgvsp: ENSP00000356370.3:p.Arg1286Trp
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34377
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1286Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-197407784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407784
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407784
    reference: chr 1
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3857G>A
  hgvsp: ENSP00000356370.3:p.Arg1286Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2300G>A
  hgvsp: ENSP00000444556.1:p.Arg767Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2000G>A
  hgvsp: ENSP00000356367.1:p.Arg667Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+420C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2249G>A
  hgvsp: ENSP00000438091.1:p.Arg750Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3785G>A
  hgvsp: ENSP00000438786.1:p.Arg1262Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3857G>A
  hgvsp: ENSP00000433932.1:p.Arg1286Gln
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3521G>A
  hgvsp: ENSP00000356369.2:p.Arg1174Gln
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1286Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-197407785-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407785
    reference: chr 1
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3858G>T
  hgvsp: ENST00000484075.1:c.3858G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2301G>T
  hgvsp: ENST00000544212.1:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3522G>T
  hgvsp: ENST00000367399.2:c.3522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3858G>T
  hgvsp: ENST00000367400.3:c.3858G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3786G>T
  hgvsp: ENST00000535699.1:c.3786G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+419C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2001G>T
  hgvsp: ENST00000367397.1:c.2001G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2250G>T
  hgvsp: ENST00000538660.1:c.2250G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34372
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1286Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-197407787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407787
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407787
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3860C>T
  hgvsp: ENSP00000433932.1:p.Pro1287Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2303C>T
  hgvsp: ENSP00000444556.1:p.Pro768Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+417G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3524C>T
  hgvsp: ENSP00000356369.2:p.Pro1175Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2252C>T
  hgvsp: ENSP00000438091.1:p.Pro751Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2003C>T
  hgvsp: ENSP00000356367.1:p.Pro668Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3860C>T
  hgvsp: ENSP00000356370.3:p.Pro1287Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3788C>T
  hgvsp: ENSP00000438786.1:p.Pro1263Leu
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1287Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-197407790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407790
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3863G>A
  hgvsp: ENSP00000433932.1:p.Gly1288Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3791G>A
  hgvsp: ENSP00000438786.1:p.Gly1264Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3527G>A
  hgvsp: ENSP00000356369.2:p.Gly1176Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+414C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2006G>A
  hgvsp: ENSP00000356367.1:p.Gly669Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2255G>A
  hgvsp: ENSP00000438091.1:p.Gly752Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3863G>A
  hgvsp: ENSP00000356370.3:p.Gly1288Asp
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2306G>A
  hgvsp: ENSP00000444556.1:p.Gly769Asp
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1288Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-197407792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407792
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3793T>C
  hgvsp: ENSP00000438786.1:p.Phe1265Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3865T>C
  hgvsp: ENSP00000433932.1:p.Phe1289Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+412A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2308T>C
  hgvsp: ENSP00000444556.1:p.Phe770Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3865T>C
  hgvsp: ENSP00000356370.3:p.Phe1289Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3529T>C
  hgvsp: ENSP00000356369.2:p.Phe1177Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2257T>C
  hgvsp: ENSP00000438091.1:p.Phe753Leu
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2008T>C
  hgvsp: ENSP00000356367.1:p.Phe670Leu
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1289Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-197407797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407797
    reference: chr 1
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3870T>C
  hgvsp: ENST00000367400.3:c.3870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+407A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3870T>C
  hgvsp: ENST00000484075.1:c.3870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3534T>C
  hgvsp: ENST00000367399.2:c.3534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2313T>C
  hgvsp: ENST00000544212.1:c.2313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3798T>C
  hgvsp: ENST00000535699.1:c.3798T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2013T>C
  hgvsp: ENST00000367397.1:c.2013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2262T>C
  hgvsp: ENST00000538660.1:c.2262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1290Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-197407800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407800
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2316A>G
  hgvsp: ENST00000544212.1:c.2316A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3873A>G
  hgvsp: ENST00000367400.3:c.3873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3801A>G
  hgvsp: ENST00000535699.1:c.3801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2265A>G
  hgvsp: ENST00000538660.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3873A>G
  hgvsp: ENST00000484075.1:c.3873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2016A>G
  hgvsp: ENST00000367397.1:c.2016A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3537A>G
  hgvsp: ENST00000367399.2:c.3537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+404T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1291Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

1-197407803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407803
    reference: chr 1
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3804A>G
  hgvsp: ENST00000535699.1:c.3804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2268A>G
  hgvsp: ENST00000538660.1:c.2268A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2319A>G
  hgvsp: ENST00000544212.1:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3876A>G
  hgvsp: ENST00000484075.1:c.3876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+401T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3876A>G
  hgvsp: ENST00000367400.3:c.3876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2019A>G
  hgvsp: ENST00000367397.1:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3540A>G
  hgvsp: ENST00000367399.2:c.3540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2343
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: c.3876A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS

1-197407806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407806
    reference: chr 1
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.2022G>A
  hgvsp: ENSP00000356367.1:p.Trp674Ter
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+1G>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+398C>T
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3878+1G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-197407817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407817
    reference: chr 1
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+387A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+12T>C
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.*8T>C
  variant of: http://identifiers.org/hgnc/2343
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-197407820-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407820
    reference: chr 1
allele count: 21
allele frequency: 1.73559456510959e-4
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+15A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.*11A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+15A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+384T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+15A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+15A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+15A>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+15A>T
  variant of: http://identifiers.org/hgnc/2343
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-197407822-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407822
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407822
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.*13C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+382G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+17C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+17C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+17C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+17C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+17C>A
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+17C>A
  variant of: http://identifiers.org/hgnc/2343
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

1-197407822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407822
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407822
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+17C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+17C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+17C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+382G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+17C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+17C>T
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+17C>T
  variant of: http://identifiers.org/hgnc/2343
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-197407825-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197407825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 197407825
    reference: chr 1
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438786
  ensembl transcript: ENST00000535699
  gene symbol: CRB1
  hgvsc: ENST00000535699.1:c.3806+20T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356369
  ensembl transcript: ENST00000367399
  gene symbol: CRB1
  hgvsc: ENST00000367399.2:c.3542+20T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230260
  ensembl transcript: ENST00000422250
  gene symbol: RP11-75C23.1
  hgvsc: ENST00000422250.1:n.410+379A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000433932
  ensembl transcript: ENST00000484075
  gene symbol: CRB1
  hgvsc: ENST00000484075.1:c.3878+20T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000444556
  ensembl transcript: ENST00000544212
  gene symbol: CRB1
  hgvsc: ENST00000544212.1:c.2321+20T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356367
  ensembl transcript: ENST00000367397
  gene symbol: CRB1
  hgvsc: ENST00000367397.1:c.*16T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000356370
  ensembl transcript: ENST00000367400
  gene symbol: CRB1
  hgvsc: ENST00000367400.3:c.3878+20T>G
  variant of: http://identifiers.org/hgnc/2343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134376
  ensembl protein: ENSP00000438091
  ensembl transcript: ENST00000538660
  gene symbol: CRB1
  hgvsc: ENST00000538660.1:c.2270+20T>G
  variant of: http://identifiers.org/hgnc/2343
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.577038322031225e-4
allele num: 12682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 1.642e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 1.418593e6

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534307106910519e-5
allele num: 65176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 6.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 1.417191e6

GenotypeQuality
all individuals: 598
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539029795616843e-5
allele num: 64976
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 4.405e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.345e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.414847e6

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45684
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537799101925324e-5
allele num: 65028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 1.414916e6

QD
type: SiteQuality
SIO_000300: 9.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
SIO_000300: 3.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 263
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.144e1

FS
type: SiteQuality
SIO_000300: 2.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.415142e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5168
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12116
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.415842e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.494e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

FS
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 1.416141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12446
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.417832e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.893e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 1.417711e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 1.213e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 5118
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.768972227136034e-4
allele num: 11306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535862386730149e-5
allele num: 65110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.037293039704228e-5
allele num: 12442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.417711e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 1.213e0

GenotypeQuality
all individuals: 1090
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 337
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12484
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.769285208775655e-4
allele num: 11304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.071536075191203e-5
allele num: 65114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.418186e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.202e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533836431682925e-5
allele num: 65196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422705e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 226
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.70891150169596e-5
allele num: 12972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.457e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.424313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3086
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.75e1
variant carriers: 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: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

VQSLOD
type: SiteQuality
SIO_000300: -3.492e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.425759e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 8.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532050496384361e-5
allele num: 65272
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

FS
type: SiteQuality
SIO_000300: 1.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.427e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.698e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530268715186387e-5
allele num: 65348
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.666e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.431782e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14890
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527043948324833e-5
allele num: 65486
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.447065e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 1.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2239
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.448241e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.792435920415845e-4
allele num: 11158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

DP
type: SiteQuality
SIO_000300: 1.449137e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

FS
type: SiteQuality
SIO_000300: 4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

Other
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: 10234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531768886710373e-5
allele num: 65284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.449137e6

QD
type: SiteQuality
SIO_000300: 1.501e1

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 52

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 638
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 1.274534794799898e-4
allele num: 15692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.638358630536673e-4
allele num: 64434
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.090836969456565e-3
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.880969183721477e-4
allele num: 8502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.615384615384615e-3
allele num: 6500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 1.435022e6

QD
type: SiteQuality
SIO_000300: 1.338e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564749327157789e-5
allele num: 63908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.56e0

FS
type: SiteQuality
SIO_000300: 1.1591e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e0

DP
type: SiteQuality
SIO_000300: 1.423963e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeQuality
all individuals: 641
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.841620626151013e-4
allele num: 10860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 1.0715e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.336e0

DP
type: SiteQuality
SIO_000300: 1.408817e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 1

GenotypeQuality
all individuals: 567
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63025758069775e-5
allele num: 61340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 4.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

DP
type: SiteQuality
SIO_000300: 1.367132e6

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4238
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664447403462051e-5
allele num: 60080
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.338651e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.04e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 584
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.75641971405487e-5
allele num: 56934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.25488e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14696
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.774056202100482e-5
allele num: 56368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.239561e6

FS
type: SiteQuality
SIO_000300: 4.439e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.368e-1

GenotypeQuality
all individuals: 3408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.854009595613433e-5
allele num: 14590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 1.22009e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 277
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.549907005579665e-4
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.769e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

DP
type: SiteQuality
SIO_000300: 9.9236e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.200123206899586e-5
allele num: 45452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 9.22424e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.951e0

GenotypeQuality
all individuals: 28579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.376425855513308e-5
allele num: 42080
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

DP
type: SiteQuality
SIO_000300: 8.41877e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

VQSLOD
type: SiteQuality
SIO_000300: -2.697e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4881
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1505
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1643
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8409
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 3

African
type: Population
allele count: 5
allele frequency: 6.776904310111142e-4
allele num: 7378
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.6875e-3
allele num: 640
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.871440195280716e-3
allele num: 12290
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 9.006304413089162e-4
allele num: 6662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 188
allele frequency: 4.746995253004747e-3
allele num: 39604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e0

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

FS
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 8.05928e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.584283903675539e-4
allele num: 6312
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.583e0

DP
type: SiteQuality
SIO_000300: 7.8145e5

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.725e1

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4667
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
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variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.955606786073181e-5
allele num: 33834
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 4.501e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

DP
type: SiteQuality
SIO_000300: 7.38876e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6261
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.242962770787391e-5
allele num: 30836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.84e0

FS
type: SiteQuality
SIO_000300: 5.006e0

DP
type: SiteQuality
SIO_000300: 7.20971e5

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 4.147e0

DP
type: SiteQuality
SIO_000300: 2.792644e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 34391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -5.657e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.051366776809853e-4
allele num: 66580
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 8.599999999999999e-2

FS
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -4.65e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
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DP
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QD
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FS
type: SiteQuality
SIO_000300: 1.823e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 44

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

Latino
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allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

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

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

Other
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allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.855328348797406e-4
allele num: 66606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
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SIO_000300: 2.799324e6

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
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SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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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: 11458
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

DP
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SIO_000300: 2.797942e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

QD
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SIO_000300: 1.562e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
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allele num: 16498
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.724480893386844e-5
allele num: 11462
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 906
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East Asian
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MQRankSum
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QD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: 6.3e-3

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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MQRankSum
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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East Asian
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.050199537912203e-4
allele num: 66654
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

QD
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BaseQRankSum
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SIO_000300: -3.598e0

FS
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -8.9e-1

GenotypeQuality
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variant carriers: 1

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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DP
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VQSLOD
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SIO_000300: 9.1e-1

BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
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QD
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SIO_000300: 1.091e1

ClippingRankSum
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SIO_000300: -1.427e0

ReadPosRankSum
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SIO_000300: 1.46e0

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

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

European (Non-Finnish)
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allele frequency: 1.050042001680067e-4
allele num: 66664
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
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MQ
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MQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
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DP
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SIO_000300: 2.800647e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.800349e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.356e0

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

Other
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 8.710801393728223e-5
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num of homozygotes: 0

European (Non-Finnish)
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ClippingRankSum
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QD
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 11
allele frequency: 1.271382339343504e-3
allele num: 8652
num of homozygotes: 0

Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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African
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16508
num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.996e0

MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.98e1

VQSLOD
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SIO_000300: 2.74e-1

ClippingRankSum
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SIO_000300: 3.17e-1

DP
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FS
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SIO_000300: 1.798e0

QD
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ReadPosRankSum
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SIO_000300: -6.47e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66692
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South Asian
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allele num: 16506
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Other
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East Asian
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: 2.48e0

ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
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African
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allele frequency: 9.620935154897056e-5
allele num: 10394
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Latino
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allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

East Asian
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
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ClippingRankSum
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MQ
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SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.800345e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.99970001499925e-5
allele num: 66670
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.066e0

DP
type: SiteQuality
SIO_000300: 2.800467e6

ClippingRankSum
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SIO_000300: -8.95e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.11e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.800349e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

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

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.999580058791769e-5
allele num: 66676
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Latino
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East Asian
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South Asian
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.311604253351826e-4
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African
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66664
num of homozygotes: 0

African
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Latino
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Other
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East Asian
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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QD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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allele frequency: 2.043596730245231e-3
allele num: 10276
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South Asian
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European (Finnish)
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East Asian
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Other
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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European (Finnish)
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MQRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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FS
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DP
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