X-153149506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149506
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149506
    reference: chr 0
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+2013C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+2013C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+2013C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.552C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+2013C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8107C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.337G>A
  hgvsp: ENSP00000389835.1:p.Gly113Glu
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-170G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly113Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

X-153149520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149520
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149520
    reference: chr 0
allele count: 1
allele frequency: 9.660902328277462e-5
allele num: 10351
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.351G>A
  hgvsp: ENSP00000389835.1:p.Gly118Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1999C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.538C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1999C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1999C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8121C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-156G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1999C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 2091
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genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6012
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly118Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

X-153149522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149522
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149522
    reference: chr 0
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1997G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8123G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1997G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1997G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.353C>T
  hgvsp: ENST00000452593.1:c.353C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.536G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-154C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1997G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly118Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

X-153149536-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149536
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149536
    reference: chr 0
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1983A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1983A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8137A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.522A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.367T>A
  hgvsp: ENSP00000389835.1:p.Phe123Tyr
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-140T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1983A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1983A>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
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genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe123Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

X-153149550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149550
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149550
    reference: chr 0
allele count: 1
allele frequency: 9.484066767830046e-5
allele num: 10544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.508G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-126C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1969G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1969G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.381C>T
  hgvsp: ENSP00000389835.1:p.Pro128Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1969G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1969G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8151G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro128Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

X-153149594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149594
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149594
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 13100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.464G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1925G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.425C>T
  hgvsp: ENST00000452593.1:c.425C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-82C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8195G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1925G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1925G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1925G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27143
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His142His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

X-153149595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149595
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149595
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 13260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.463C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1924C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-81G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8196C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.426G>A
  hgvsp: ENSP00000389835.1:p.Glu143Lys
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1924C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1924C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1924C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27887
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu143Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

X-153149607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149607
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149607
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 13926
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1912T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-69A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.451T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1912T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.438A>G
  hgvsp: ENSP00000389835.1:p.Asn147Asp
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1912T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1912T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8208T>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31659
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn147Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-153149633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149633
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149633
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 14887
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1886G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.464C>T
  hgvsp: ENST00000452593.1:c.464C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.425G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8234G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1886G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-43C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1886G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1886G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32245
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu155Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

X-153149639-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149639
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149639
    reference: chr 0
allele count: 1
allele frequency: 6.577216521967904e-5
allele num: 15204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-37T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.470T>G
  hgvsp: ENSP00000389835.1:p.His157Gln
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1880A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1880A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1880A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8240A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1880A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.419A>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His157Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

X-153149655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149655
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149655
    reference: chr 0
allele count: 87
allele frequency: 5.145493257629525e-3
allele num: 16908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.486C>T
  hgvsp: ENSP00000389835.1:p.Arg163Trp
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1864G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1864G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1864G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.403G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8256G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1864G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-21C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 17366
  bin: 7.5e0
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28188
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15152
  bin: 2.25e1
  variant carriers: 11
hgvs: p.Arg163Trp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

X-153149656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149656
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149656
    reference: chr 0
allele count: 178
allele frequency: 1.033621740897741e-2
allele num: 17221
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-20G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.487G>A
  hgvsp: ENSP00000389835.1:p.Arg163Gln
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1863C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1863C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.402C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8257C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1863C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1863C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 27701
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 7.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27023
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 4
hgvs: p.Arg163Gln
num of homozygotes: 5
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

X-153149658-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149658
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149658
    reference: chr 0
allele count: 1
allele frequency: 5.683432793407218e-5
allele num: 17595
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.400G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1861G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-18C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1861G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1861G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8259G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1861G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.489C>A
  hgvsp: ENSP00000389835.1:p.Pro164Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18657
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro164Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-153149662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149662
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149662
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 18268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1857T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8263T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1857T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.493A>G
  hgvsp: ENSP00000389835.1:p.Lys165Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1857T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.396T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.-14A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1857T>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys165Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-153149697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149697
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149697
    reference: chr 0
allele count: 1
allele frequency: 1.910219675262655e-4
allele num: 5235
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.22G>A
  hgvsp: ENSP00000350178.1:p.Asp8Asn
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.361C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.528G>A
  hgvsp: ENSP00000389835.1:p.Asp177Asn
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8298C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1822C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1822C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1822C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1822C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp177Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

X-153149699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149699
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149699
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1820G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.24C>T
  hgvsp: ENST00000357566.1:c.24C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1820G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.530C>T
  hgvsp: ENST00000452593.1:c.530C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8300G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1820G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.359G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1820G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp177Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

X-153149701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149701
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149701
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.357C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1818C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.532G>A
  hgvsp: ENSP00000389835.1:p.Cys178Tyr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1818C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1818C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.26G>A
  hgvsp: ENSP00000350178.1:p.Cys9Tyr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8302C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1818C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys178Tyr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-153149703-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149703
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149703
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.28C>A
  hgvsp: ENSP00000350178.1:p.Pro10Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1816G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8304G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.534C>A
  hgvsp: ENSP00000389835.1:p.Pro179Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.355G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1816G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1816G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1816G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro179Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

X-153149704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149704
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149704
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.29C>T
  hgvsp: ENSP00000350178.1:p.Pro10Leu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.354G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1815G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8305G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1815G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1815G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.535C>T
  hgvsp: ENSP00000389835.1:p.Pro179Leu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1815G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro179Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

X-153149705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149705
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149705
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.30A>G
  hgvsp: ENST00000357566.1:c.30A>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1814T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1814T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.536A>G
  hgvsp: ENST00000452593.1:c.536A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1814T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.353T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8306T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1814T>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro179Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

X-153149707-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149707
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149708
    reference: chr 0
allele count: 3
allele frequency: 2.803738317757009e-2
allele num: 107
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.538_539insA
  hgvsp: ENSP00000389835.1:p.Trp181ValfsTer4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8309_155-8308insT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1811_78+1812insT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.32_33insA
  hgvsp: ENSP00000350178.1:p.Trp12ValfsTer4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1811_-191+1812insT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.350_351insT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1811_-109+1812insT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1811_-109+1812insT
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp181ValfsTer4
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

X-153149708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149708
    reference: chr 0
allele count: 3
allele frequency: 4.524545660206621e-5
allele num: 66305
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1811C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.350C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1811C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1811C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1811C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8309C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.33G>C
  hgvsp: ENST00000357566.1:c.33G>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.539G>C
  hgvsp: ENST00000452593.1:c.539G>C(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15446
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser180Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

X-153149708-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149709
    reference: chr 0
allele count: 66302
allele frequency: 9.999547545433979e-1
allele num: 66305
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.33_34insC
  hgvsp: ENSP00000350178.1:p.Trp12LeufsTer4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.349_350insG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1810_-191+1811insG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.539_540insC
  hgvsp: ENSP00000389835.1:p.Trp181LeufsTer4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8310_155-8309insG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1810_-109+1811insG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1810_78+1811insG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1810_-109+1811insG
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.25e1
  variant carriers: 6759
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.75e1
  variant carriers: 3675
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 7.5e0
  variant carriers: 14699
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 1.75e1
  variant carriers: 10748
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.5e0
  variant carriers: 3266
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 1085
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 1930
genotype depth: GenotypeDepth
  all individuals: 15446
  bin: 1.25e1
  variant carriers: 15446
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 696
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 2934
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 1168
genotype quality: GenotypeQuality
  all individuals: 6095
  bin: 9.75e1
  variant carriers: 6095
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.5e0
  variant carriers: 728
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.25e1
  variant carriers: 1194
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 6.25e1
  variant carriers: 3332
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 2.25e1
  variant carriers: 5206
hgvs: p.Trp181LeufsTer4
num of homozygotes: 24336
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

X-153149709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149709
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149709
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1810A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1810A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8310A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.349A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1810A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.34T>C
  hgvsp: ENSP00000350178.1:p.Trp12Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.540T>C
  hgvsp: ENSP00000389835.1:p.Trp181Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1810A>G
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp181Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-153149710-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149710
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149710
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 66434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.541G>T
  hgvsp: ENSP00000389835.1:p.Trp181Leu
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1809C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1809C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.348C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1809C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1809C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.35G>T
  hgvsp: ENSP00000350178.1:p.Trp12Leu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8311C>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp181Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-153149711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149711
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149711
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 66487
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1808C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.542G>T
  hgvsp: ENSP00000389835.1:p.Trp181Cys
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1808C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.347C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.36G>T
  hgvsp: ENSP00000350178.1:p.Trp12Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1808C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8312C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1808C>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10762
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp181Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-153149715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149715
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149715
    reference: chr 0
allele count: 69660
allele frequency: 1.0e0
allele num: 69660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1804G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.546C>G
  hgvsp: ENSP00000389835.1:p.Pro183Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8316G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.40C>G
  hgvsp: ENSP00000350178.1:p.Pro14Ala
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1804G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1804G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1804G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.343G>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 2.75e1
  variant carriers: 4403
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 699
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 2341
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 7.5e0
  variant carriers: 12973
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 1.75e1
  variant carriers: 11426
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 2300
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 1.25e1
  variant carriers: 15401
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 1393
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 2.25e1
  variant carriers: 7352
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 4.25e1
  variant carriers: 2933
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 4.75e1
  variant carriers: 5036
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 2098
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 5876
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 6.25e1
  variant carriers: 3333
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 6.75e1
  variant carriers: 3016
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.75e1
  variant carriers: 2929
hgvs: p.Pro183Ala
num of homozygotes: 25013
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-153149721-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149721
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149721
    reference: chr 0
allele count: 1
allele frequency: 1.615300122762809e-5
allele num: 61908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.46C>A
  hgvsp: ENSP00000350178.1:p.Arg16Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.337G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8322G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1798G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1798G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.552C>A
  hgvsp: ENSP00000389835.1:p.Arg185Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1798G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1798G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg185Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

X-153149721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149721
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149721
    reference: chr 0
allele count: 1
allele frequency: 1.615300122762809e-5
allele num: 61908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.552C>T
  hgvsp: ENSP00000389835.1:p.Arg185Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.337G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1798G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8322G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1798G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1798G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.46C>T
  hgvsp: ENSP00000350178.1:p.Arg16Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1798G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg185Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-153149722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149722
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149722
    reference: chr 0
allele count: 3
allele frequency: 4.853033955060906e-5
allele num: 61817
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1797C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.336C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.47G>A
  hgvsp: ENSP00000350178.1:p.Arg16His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1797C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1797C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.553G>A
  hgvsp: ENSP00000389835.1:p.Arg185His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8323C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1797C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg185His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

X-153149726-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149726
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149726
    reference: chr 0
allele count: 1
allele frequency: 1.626254248589224e-5
allele num: 61491
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1793C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.51G>C
  hgvsp: ENST00000357566.1:c.51G>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8327C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1793C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1793C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.557G>C
  hgvsp: ENST00000452593.1:c.557G>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.332C>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1793C>G
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 7.5e0
  variant carriers: 0
hgvs: c.557G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

X-153149745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149745
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149745
    reference: chr 0
allele count: 22
allele frequency: 3.668500917125229e-4
allele num: 59970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.313A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1774A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.52+18T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.558+18T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1774A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1774A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1774A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8346A>G
  variant of: http://identifiers.org/hgnc/6470
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10185
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

X-153149750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149750
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149750
    reference: chr 0
allele count: 2
allele frequency: 3.375470456194832e-5
allele num: 59251
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1769C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.52+23G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1769C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.308C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1769C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8351C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1769C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.558+23G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6249
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

X-153149766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149766
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149766
    reference: chr 0
allele count: 1
allele frequency: 1.736201538274563e-5
allele num: 57597
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.558+39C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1753G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.292G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1753G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1753G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1753G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.52+39C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8367G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7178
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

X-153149767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153149767
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153149767
    reference: chr 0
allele count: 1
allele frequency: 1.744165765514354e-5
allele num: 57334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.52+40G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.291C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+1752C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-8368C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+1752C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.558+40G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+1752C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+1752C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-153150786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150786
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150786
    reference: chr 0
allele count: 1
allele frequency: 9.085127646043427e-5
allele num: 11007
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+733G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+733G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9387G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+733G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.53-31C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+733G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+733G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.559-31C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

X-153150791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150791
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150791
    reference: chr 0
allele count: 5532
allele frequency: 4.930920759425974e-1
allele num: 11219
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+728G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.53-26C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9392G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+728G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.559-26C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+728G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+728G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+728G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 624
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 720
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 270
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 9.75e1
  variant carriers: 2597
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.25e1
  variant carriers: 152
num of homozygotes: 773
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-153150876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150876
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150876
    reference: chr 0
allele count: 1
allele frequency: 1.014095933475307e-4
allele num: 9861
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+643C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.112G>T
  hgvsp: ENSP00000350178.1:p.Ala38Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9477C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.618G>T
  hgvsp: ENSP00000389835.1:p.Ala207Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+643C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+643C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+643C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+643C>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala207Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

X-153150877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150877
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150877
    reference: chr 0
allele count: 1
allele frequency: 1.018433649047765e-4
allele num: 9819
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.619C>A
  hgvsp: ENSP00000389835.1:p.Ala207Glu
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+642G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+642G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+642G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+642G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.113C>A
  hgvsp: ENSP00000350178.1:p.Ala38Glu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9478G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+642G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala207Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-153150884-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150884
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150884
    reference: chr 0
allele count: 2
allele frequency: 2.11999152003392e-4
allele num: 9434
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.626T>G
  hgvsp: ENST00000452593.1:c.626T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.120T>G
  hgvsp: ENST00000357566.1:c.120T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+635A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+635A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+635A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+635A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9485A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+635A>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Gly209Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

X-153150888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150888
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150888
    reference: chr 0
allele count: 1
allele frequency: 1.067235859124867e-4
allele num: 9370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.630C>T
  hgvsp: ENSP00000389835.1:p.Arg211Trp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+631G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+631G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+631G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+631G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.124C>T
  hgvsp: ENSP00000350178.1:p.Arg42Trp
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+631G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9489G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg211Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

X-153150916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150916
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150916
    reference: chr 0
allele count: 1
allele frequency: 1.177717583323519e-4
allele num: 8491
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+603C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+603C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+603C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.632+26G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9517C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+603C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+603C>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.126+26G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

X-153150929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150929
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150929
    reference: chr 0
allele count: 4301
allele frequency: 5.260518590998043e-1
allele num: 8176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+590C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+590C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+590C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+590C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.126+39G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+590C>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.632+39G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9530C>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 567
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 7.5e0
  variant carriers: 906
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.5e0
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 925
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 1041
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 371
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.25e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.5e0
  variant carriers: 256
num of homozygotes: 599
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

X-153150934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153150934
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153150934
    reference: chr 0
allele count: 1
allele frequency: 1.344266702513779e-4
allele num: 7439
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9535T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+585T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+585T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+585T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+585T>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.126+44A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.632+44A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+585T>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

X-153151228-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151228
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151228
    reference: chr 0
allele count: 1
allele frequency: 6.666666666666667e-3
allele num: 150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+291A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+291A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9829A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.127-34T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+291A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+291A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.633-34T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+291A>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25767
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

X-153151262-GCCAGCATCTGGGGCCCCGCAGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151262
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151239
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsp: ENSP00000350178.1:p.Ala43ValfsTer66
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsp: ENSP00000389835.1:p.Ala212ValfsTer66
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala212ValfsTer66
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: GCCAGCATCTGGGGCCCCGCAGGT
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

X-153151267-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151267
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151267
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+252G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+252G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+252G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+252G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.638C>A
  hgvsp: ENSP00000389835.1:p.Ser213Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+252G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.132C>A
  hgvsp: ENSP00000350178.1:p.Ser44Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9868G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser213Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

X-153151269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151269
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+250A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.134T>C
  hgvsp: ENSP00000350178.1:p.Ile45Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+250A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9870A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+250A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.640T>C
  hgvsp: ENSP00000389835.1:p.Ile214Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+250A>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+250A>G
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 649
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1432
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile214Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

X-153151269-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151269
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+250A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+250A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.640T>G
  hgvsp: ENSP00000389835.1:p.Ile214Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+250A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+250A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.134T>G
  hgvsp: ENSP00000350178.1:p.Ile45Ser
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+250A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9870A>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 649
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile214Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

X-153151271-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151271
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151271
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+248A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+248A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.642T>A
  hgvsp: ENSP00000389835.1:p.Trp215Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+248A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.136T>A
  hgvsp: ENSP00000350178.1:p.Trp46Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+248A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+248A>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9872A>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp215Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-153151277-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151277
    reference: chr 0
allele count: 13
allele frequency: 1.0e0
allele num: 13
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.142C>G
  hgvsp: ENSP00000350178.1:p.Pro48Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+242G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.648C>G
  hgvsp: ENSP00000389835.1:p.Pro217Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+242G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+242G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+242G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9878G>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+242G>C
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.5e0
  variant carriers: 3282
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 1065
hgvs: p.Pro217Ala
num of homozygotes: 6
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

X-153151277-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151277
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 13
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+242G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.142C>A
  hgvsp: ENSP00000350178.1:p.Pro48Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+242G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9878G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+242G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.648C>A
  hgvsp: ENSP00000389835.1:p.Pro217Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+242G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+242G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro217Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

X-153151280-G-GAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151280
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151282
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 15
alternate allele: GAC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+238_-109+239insGT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+238_78+239insGT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+238_-191+239insGT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.651_652insAC
  hgvsp: ENSP00000389835.1:p.Ala218AspfsTer73
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9882_155-9881insGT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.145_146insAC
  hgvsp: ENSP00000350178.1:p.Ala49AspfsTer73
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+238_-109+239insGT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+238_97+239insGT
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala218AspfsTer73
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-153151280-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151280
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151281
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 15
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.146dupC
  hgvsp: ENSP00000350178.1:p.Gly50ArgfsTer67
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+238dupG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+238dupG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+238dupG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+238dupG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9882dupG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.652dupC
  hgvsp: ENSP00000389835.1:p.Gly219ArgfsTer67
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+238dupG
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly219ArgfsTer67
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-153151280-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151280
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151282
    reference: chr 0
allele count: 15
allele frequency: 1.0e0
allele num: 15
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+238_97+239insGG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+238_-191+239insGG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+238_-109+239insGG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.652_653insCC
  hgvsp: ENSP00000389835.1:p.Gly219GlnfsTer72
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9882_155-9881insGG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.146_147insCC
  hgvsp: ENSP00000350178.1:p.Gly50GlnfsTer72
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+238_78+239insGG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+238_-109+239insGG
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 665
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.5e0
  variant carriers: 3074
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 19
hgvs: p.Gly219GlnfsTer72
num of homozygotes: 7
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

X-153151280-GCAGGTTACC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151280
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151271
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 15
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.147_155delAGGTTACCC
  hgvsp: ENSP00000350178.1:p.Gly50_Pro52del
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.653_661delAGGTTACCC
  hgvsp: ENSP00000389835.1:p.Gly219_Pro221del
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly219_Pro221del
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: GCAGGTTACC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

X-153151281-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151283
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+237_-191+238insAG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.652_653insCT
  hgvsp: ENSP00000389835.1:p.Gly219Ter
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+237_-109+238insAG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9883_155-9882insAG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+237_97+238insAG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.146_147insCT
  hgvsp: ENSP00000350178.1:p.Gly50Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+237_78+238insAG
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+237_-109+238insAG
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly219Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

X-153151281-CAGGTTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151275
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+232_-191+237delTAACCT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+232_78+237delTAACCT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+232_-109+237delTAACCT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.653_658delAGGTTA
  hgvsp: ENSP00000389835.1:p.Gly219_Tyr220del
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+232_97+237delTAACCT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.147_152delAGGTTA
  hgvsp: ENSP00000350178.1:p.Gly50_Tyr51del
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+232_-109+237delTAACCT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly219_Tyr220del
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: CAGGTTA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

X-153151282-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151282
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9883T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+237T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+237T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.147A>C
  hgvsp: ENST00000357566.1:c.147A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+237T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+237T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.653A>C
  hgvsp: ENST00000452593.1:c.653A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+237T>G
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala218Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

X-153151284-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151284
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151283
    reference: chr 0
allele count: 18
allele frequency: 1.0e0
allele num: 18
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9886delA
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+234delA
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.657delT
  hgvsp: ENSP00000389835.1:p.Tyr220ThrfsTer70
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.151delT
  hgvsp: ENSP00000350178.1:p.Tyr51ThrfsTer70
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+234delA
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+234delA
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+234delA
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+234delA
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.5e0
  variant carriers: 2939
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.75e1
  variant carriers: 838
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 210
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 4
hgvs: p.Tyr220ThrfsTer70
num of homozygotes: 8
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: GT
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-153151285-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151285
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151285
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+234A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+234A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.150T>G
  hgvsp: ENST00000357566.1:c.150T>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+234A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9886A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+234A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+234A>C
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.656T>G
  hgvsp: ENST00000452593.1:c.656T>G(p.%3D)
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly219Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-153151286-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151286
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151285
    reference: chr 0
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+232delT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.152delA
  hgvsp: ENSP00000350178.1:p.Tyr51SerfsTer70
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9888delT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.658delA
  hgvsp: ENSP00000389835.1:p.Tyr220SerfsTer70
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+232delT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+232delT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+232delT
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+232delT
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Tyr220SerfsTer70
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: TA
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-153151287-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151287
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.152A>C
  hgvsp: ENSP00000350178.1:p.Tyr51Ser
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+232T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+232T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+232T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+232T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+232T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9888T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.658A>C
  hgvsp: ENSP00000389835.1:p.Tyr220Ser
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 331
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr220Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

X-153151288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151288
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151288
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+231G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9889G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.659C>T
  hgvsp: ENST00000452593.1:c.659C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+231G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+231G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.153C>T
  hgvsp: ENST00000357566.1:c.153C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+231G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+231G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr220Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

X-153151289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151289
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151289
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 18
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.660C>T
  hgvsp: ENSP00000389835.1:p.Pro221Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+230G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+230G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+230G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+230G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.154C>T
  hgvsp: ENSP00000350178.1:p.Pro52Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9890G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+230G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro221Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

X-153151291-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151291
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151291
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 22
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.662C>A
  hgvsp: ENST00000452593.1:c.662C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+228G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+228G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9892G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+228G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.156C>A
  hgvsp: ENST00000357566.1:c.156C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+228G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+228G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11803
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro221Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

X-153151293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151293
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151293
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.158C>A
  hgvsp: ENSP00000350178.1:p.Ser53Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9894G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+226G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.664C>A
  hgvsp: ENSP00000389835.1:p.Ser222Ter
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+226G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+226G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+226G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+226G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10639
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser222Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

X-153151294-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151294
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151294
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+225T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.159A>C
  hgvsp: ENST00000357566.1:c.159A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+225T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+225T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+225T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9895T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+225T>G
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.665A>C
  hgvsp: ENST00000452593.1:c.665A>C(p.%3D)
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7967
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser222Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

X-153151295-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151295
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151295
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+224G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9896G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.160C>A
  hgvsp: ENSP00000350178.1:p.Pro54Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+224G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+224G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+224G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.666C>A
  hgvsp: ENSP00000389835.1:p.Pro223Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+224G>T
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro223Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

X-153151295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151295
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151295
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+224G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.160C>T
  hgvsp: ENSP00000350178.1:p.Pro54Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+224G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+224G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+224G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.666C>T
  hgvsp: ENSP00000389835.1:p.Pro223Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+224G>A
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9896G>A
  variant of: http://identifiers.org/hgnc/6470
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12094
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro223Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

X-153151296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151296
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151296
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 24
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.667C>A
  hgvsp: ENSP00000389835.1:p.Pro223His
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+223G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+223G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+223G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359072
  ensembl transcript: ENST00000370055
  gene symbol: L1CAM
  hgvsc: ENST00000370055.1:c.-109+223G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+223G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9897G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.161C>A
  hgvsp: ENSP00000350178.1:p.Pro54His
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro223His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

X-153151300-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24153151300
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24153151300
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 27
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000389835
  ensembl transcript: ENST00000452593
  gene symbol: LCA10
  hgvsc: ENST00000452593.1:c.671C>A
  hgvsp: ENST00000452593.1:c.671C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000464967
  gene symbol: L1CAM
  hgvsc: ENST00000464967.1:n.155-9901G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000484587
  gene symbol: L1CAM
  hgvsc: ENST00000484587.1:n.97+219G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000359077
  ensembl transcript: ENST00000370060
  gene symbol: L1CAM
  hgvsc: ENST00000370060.1:c.-109+219G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl transcript: ENST00000460553
  gene symbol: L1CAM
  hgvsc: ENST00000460553.1:n.78+219G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198910
  ensembl protein: ENSP00000392524
  ensembl transcript: ENST00000420165
  gene symbol: L1CAM
  hgvsc: ENST00000420165.1:c.-191+219G>T
  variant of: http://identifiers.org/hgnc/6470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196987
  ensembl protein: ENSP00000350178
  ensembl transcript: ENST00000357566
  gene symbol: LCA10
  hgvsc: ENST00000357566.1:c.165C>A
  hgvsp: ENST00000357566.1:c.165C>A(p.%3D)
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
hgvs: p.Val224Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 436
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 281
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.177226213803614e-4
allele num: 4593
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.493e0

VQSLOD
type: SiteQuality
SIO_000300: -2.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 5.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

DP
type: SiteQuality
SIO_000300: 2.28169e5

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.13e0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.171081198436822e-4
allele num: 4606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4039
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.95e-2

QD
type: SiteQuality
SIO_000300: 2.886e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 2.32026e5

GenotypeQuality
all individuals: 145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 399
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 797
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4041
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 223
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 161
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.170609941393532e-4
allele num: 4607
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

DP
type: SiteQuality
SIO_000300: 2.32374e5

MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 2.99e1

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.75e1
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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: 9.25e1
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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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.444390124663896e-4
allele num: 4091
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 227
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 839
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 73
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 111
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 401
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.141e1

DP
type: SiteQuality
SIO_000300: 2.37351e5

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.837e-1

FS
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SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 2.152852529601722e-4
allele num: 4645
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 405
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 115
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.14e-2

DP
type: SiteQuality
SIO_000300: 2.4737e5

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 3.189e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 866
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 277
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5581
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 127
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.27333e5

QD
type: SiteQuality
SIO_000300: 1.525e1

VQSLOD
type: SiteQuality
SIO_000300: -4.938e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4715
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 129
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5661
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1981
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 277
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 457
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.611e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.32468e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
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GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4729
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 131
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6065
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.25e-2

DP
type: SiteQuality
SIO_000300: 3.58031e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.627e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 18
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 69
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 137
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.718e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.03917e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 335
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 137
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.091175240485153e-4
allele num: 4782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.438e0

MQRankSum
type: SiteQuality
SIO_000300: -1.143e0

DP
type: SiteQuality
SIO_000300: 4.17314e5

MQ
type: SiteQuality
SIO_000300: 6.092e1

QD
type: SiteQuality
SIO_000300: 3.056e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 5

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 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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variant carriers: 98

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 143
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.878975950349108e-4
allele num: 2578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.059078729105525e-2
allele num: 7837
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.228329809725159e-3
allele num: 473
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.067397146991937e-4
allele num: 4837
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 4.60985e5

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.695e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 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
all individuals: 50
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variant carriers: 5

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.84931506849315e-3
allele num: 146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 176
allele frequency: 3.602865916069601e-2
allele num: 4885
num of homozygotes: 5

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.067235859124867e-3
allele num: 937
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.69661e5

QD
type: SiteQuality
SIO_000300: 2.482e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 515
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 4.73939e5

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 2.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8583
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2725
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 147
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1103
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 577
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4931
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.937e0

VQSLOD
type: SiteQuality
SIO_000300: -7.432e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 4.88548e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.11e-2

QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2269
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

African
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allele count: 1
allele frequency: 8.539709649871904e-4
allele num: 1171
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.19628e5

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.805e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele frequency: NaN
allele num: 0
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Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.338e-1

QD
type: SiteQuality
SIO_000300: 3.258e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

DP
type: SiteQuality
SIO_000300: 8.40142e5

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele frequency: NaN
allele num: 0
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South Asian
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allele count: 0
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allele num: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 0
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.421e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 8.40175e5

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
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SIO_000300: 7.36e-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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variant carriers: 0

Other
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allele num: 0
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
allele frequency: NaN
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VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

South Asian
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European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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Other
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East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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variant carriers: 1

Latino
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allele num: 0
num of homozygotes: 0

East Asian
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Other
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.739e1

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

African
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num of homozygotes: 0

East Asian
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allele frequency: 3.75e-1
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European (Non-Finnish)
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European (Finnish)
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Latino
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allele frequency: NaN
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South Asian
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Other
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FS
type: SiteQuality
SIO_000300: 2.736e0

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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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East Asian
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allele frequency: 5.542213190467394e-4
allele num: 5413
num of homozygotes: 0

InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 4472

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5889

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3016

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2087

Latino
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allele frequency: 1.0e0
allele num: 7350
num of homozygotes: 3173

South Asian
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allele frequency: 1.0e0
allele num: 7274
num of homozygotes: 1705

African
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allele frequency: 1.0e0
allele num: 6997
num of homozygotes: 2980

East Asian
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allele frequency: 9.994457786809533e-1
allele num: 5413
num of homozygotes: 2147

European (Finnish)
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allele frequency: 1.0e0
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num of homozygotes: 841

European (Non-Finnish)
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allele frequency: 1.0e0
allele num: 36528
num of homozygotes: 13338

Other
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allele frequency: 1.0e0
allele num: 430
num of homozygotes: 152

FS
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DP
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele frequency: NaN
allele num: 0
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South Asian
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele frequency: NaN
allele num: 0
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African
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allele frequency: NaN
allele num: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

ReadPosRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 2.654e-1

DP
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SIO_000300: 9.93496e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-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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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 431
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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DP
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MQRankSum
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MQ
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BaseQRankSum
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FS
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SIO_000300: 5.879e0

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 7.9e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 427
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6996
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7404
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7079
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 9.7776e5

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
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SIO_000300: -2.068e0

FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.73e0

VQSLOD
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SIO_000300: -3.767e0

GenotypeQuality
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variant carriers: 5204

GenotypeQuality
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variant carriers: 724

GenotypeQuality
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variant carriers: 1165

GenotypeQuality
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variant carriers: 1194

GenotypeQuality
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variant carriers: 5890

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2088

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3671

Other
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allele count: 458
allele frequency: 1.0e0
allele num: 458
num of homozygotes: 158

European (Non-Finnish)
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allele frequency: 1.0e0
allele num: 38650
num of homozygotes: 13681

African
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allele frequency: 1.0e0
allele num: 7247
num of homozygotes: 3059

East Asian
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allele frequency: 1.0e0
allele num: 5644
num of homozygotes: 2194

European (Finnish)
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allele frequency: 1.0e0
allele num: 2538
num of homozygotes: 888

South Asian
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allele frequency: 1.0e0
allele num: 7371
num of homozygotes: 1754

Latino
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allele frequency: 1.0e0
allele num: 7752
num of homozygotes: 3279

ClippingRankSum
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SIO_000300: -1.223e0

InbreedingCoeff
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MQ
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 34918
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
allele num: 393
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 2175
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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allele num: 34868
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African
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DP
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.020610224287735e-4
allele num: 4949
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5285
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

DP
type: SiteQuality
SIO_000300: 8.74563e5

FS
type: SiteQuality
SIO_000300: 1.063e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 1.843e1

MQ
type: SiteQuality
SIO_000300: 5.835e1

GenotypeQuality
all individuals: 11782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5758
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20884
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 870
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 1.392369813422445e-4
allele num: 7182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2153
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5269
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34175
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 3.174603174603175e-3
allele num: 6615
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 8.60783e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.113e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.397233477714126e-4
allele num: 7157
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3940
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.527183872938302e-4
allele num: 6548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2131
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5241
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.656e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.50812e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

FS
type: SiteQuality
SIO_000300: 2.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 6.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 7925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 681
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6413
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2079
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 355
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3407
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7117
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.026817603971185e-5
allele num: 33038
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 8.500999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.623e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 8.1639e5

QD
type: SiteQuality
SIO_000300: 6.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2065
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3379
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.41282848262221e-4
allele num: 7078
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.036e0

DP
type: SiteQuality
SIO_000300: 8.14762e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 1.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 4085
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1413
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4399
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 2.25377507324769e-4
allele num: 4437
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 113
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 8.91e0

FS
type: SiteQuality
SIO_000300: 1.328e0

DP
type: SiteQuality
SIO_000300: 2.30017e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.323e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.974e-1

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 103

GenotypeQuality
all individuals: 871
bin: 2.25e1
variant carriers: 156

GenotypeQuality
all individuals: 2606
bin: 7.5e0
variant carriers: 261

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 133

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 214

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 159

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 244

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 217

GenotypeQuality
all individuals: 1773
bin: 6.25e1
variant carriers: 236

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 131

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 131

East Asian
type: Population
allele count: 279
allele frequency: 6.888888888888889e-1
allele num: 405
num of homozygotes: 71

South Asian
type: Population
allele count: 2876
allele frequency: 6.388271879164815e-1
allele num: 4502
num of homozygotes: 328

European (Non-Finnish)
type: Population
allele count: 1328
allele frequency: 2.981589582397844e-1
allele num: 4454
num of homozygotes: 132

Other
type: Population
allele count: 51
allele frequency: 4.434782608695652e-1
allele num: 115
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.222222222222222e-1
allele num: 27
num of homozygotes: 0

Latino
type: Population
allele count: 130
allele frequency: 5.462184873949579e-1
allele num: 238
num of homozygotes: 30

African
type: Population
allele count: 862
allele frequency: 5.832205683355887e-1
allele num: 1478
num of homozygotes: 207

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 2.53952e5

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.545e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.469e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.234e-1

QD
type: SiteQuality
SIO_000300: 2.389e1

GenotypeQuality
all individuals: 203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 107
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 957
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 203
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.301495972382048e-4
allele num: 4345
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.347e0

QD
type: SiteQuality
SIO_000300: 1.546e1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

DP
type: SiteQuality
SIO_000300: 1.96542e5

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

GenotypeQuality
all individuals: 409
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
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GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 4132
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 199
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 947
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4337
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.564102564102564e-4
allele num: 3900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

MQ
type: SiteQuality
SIO_000300: 6.031e1

FS
type: SiteQuality
SIO_000300: 1.1941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.05e0

DP
type: SiteQuality
SIO_000300: 1.96091e5

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 305
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.347593582887701e-4
allele num: 3740
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.466e0

DP
type: SiteQuality
SIO_000300: 1.89795e5

VQSLOD
type: SiteQuality
SIO_000300: -6.149e2

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.795e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 3.67357e2

QD
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 262
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4233
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.82598e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 7.12e0

GenotypeQuality
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 259
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3349
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 167
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 709
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.559508574353724e-4
allele num: 3907
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.48046e5

VQSLOD
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

QD
type: SiteQuality
SIO_000300: 2.372e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 114
bin: 8.25e1
variant carriers: 83

GenotypeQuality
all individuals: 391
bin: 2.75e1
variant carriers: 169

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 256

GenotypeQuality
all individuals: 1365
bin: 2.25e1
variant carriers: 280

GenotypeQuality
all individuals: 224
bin: 6.75e1
variant carriers: 165

GenotypeQuality
all individuals: 634
bin: 3.25e1
variant carriers: 341

GenotypeQuality
all individuals: 529
bin: 3.75e1
variant carriers: 353

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 195

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 81

GenotypeQuality
all individuals: 1504
bin: 9.75e1
variant carriers: 1433

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 315

African
type: Population
allele count: 430
allele frequency: 5.858310626702997e-1
allele num: 734
num of homozygotes: 115

Other
type: Population
allele count: 46
allele frequency: 4.742268041237113e-1
allele num: 97
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1007
allele frequency: 3.143927567905089e-1
allele num: 3203
num of homozygotes: 102

Latino
type: Population
allele count: 83
allele frequency: 5.15527950310559e-1
allele num: 161
num of homozygotes: 19

East Asian
type: Population
allele count: 177
allele frequency: 7.051792828685259e-1
allele num: 251
num of homozygotes: 46

South Asian
type: Population
allele count: 2557
allele frequency: 6.862587224906066e-1
allele num: 3726
num of homozygotes: 314

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.396e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.174e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 2.323e1

DP
type: SiteQuality
SIO_000300: 1.54337e5

FS
type: SiteQuality
SIO_000300: 2.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

GenotypeQuality
all individuals: 3364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3021
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 3.041362530413625e-4
allele num: 3288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 215
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 677
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.547e-1

QD
type: SiteQuality
SIO_000300: 2.897e1

DP
type: SiteQuality
SIO_000300: 1.34103e5

GenotypeQuality
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.25e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23584
bin: 7.5e0
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.166666666666666e-2
allele num: 24
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.4423e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 4.849e0

MQ
type: SiteQuality
SIO_000300: 4.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 2383
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8849
bin: 7.5e0
variant carriers: 0

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

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

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 3.9763e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.135e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.211e1

QD
type: SiteQuality
SIO_000300: 1.31e0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 4912
bin: 7.5e0
variant carriers: 0

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

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

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

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 3.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 2.857e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.464e-1

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

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

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

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

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

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

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 2.9e1

QD
type: SiteQuality
SIO_000300: 3.157e1

DP
type: SiteQuality
SIO_000300: 2.471e4

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.037e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.037e-1

DP
type: SiteQuality
SIO_000300: 2.471e4

QD
type: SiteQuality
SIO_000300: 3.157e1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

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

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

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

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

GenotypeQuality
all individuals: 1487
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 3.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.348e-1

DP
type: SiteQuality
SIO_000300: 2.1039e4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 2.746e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.121e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 916

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1559

GenotypeQuality
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bin: 3.75e1
variant carriers: 7

GenotypeQuality
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bin: 2.25e1
variant carriers: 237

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 36

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 3

Latino
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allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

East Asian
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allele frequency: 1.0e0
allele num: 1
num of homozygotes: 0

African
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allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.0e0
allele num: 8
num of homozygotes: 4

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e0

QD
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MQRankSum
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SIO_000300: 7.2e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.548e-1

MQ
type: SiteQuality
SIO_000300: 3.732e1

DP
type: SiteQuality
SIO_000300: 2.1153e4

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e0

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 3.066e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.732e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.548e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.1153e4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.359e-1

MQ
type: SiteQuality
SIO_000300: 3.454e1

QD
type: SiteQuality
SIO_000300: 3.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.0721e4

GenotypeQuality
all individuals: 878
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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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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
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.0721e4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.359e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 3.454e1

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 3.134e1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 1520
bin: 7.5e0
variant carriers: 1520

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 20

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 876

GenotypeQuality
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bin: 1.25e1
variant carriers: 1048

GenotypeQuality
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variant carriers: 223

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.0e0
allele num: 3
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.0e0
allele num: 8
num of homozygotes: 4

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.0721e4

MQ
type: SiteQuality
SIO_000300: 3.454e1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.359e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.134e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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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
all individuals: 4
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
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allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.454e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.359e-1

DP
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SIO_000300: 2.0721e4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 4.124e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 12

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 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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variant carriers: 0

Other
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allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.124e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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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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GenotypeQuality
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African
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele frequency: NaN
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num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
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MQ
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1428

GenotypeQuality
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variant carriers: 996

GenotypeQuality
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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: 32

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

European (Non-Finnish)
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allele frequency: 1.0e0
allele num: 6
num of homozygotes: 3

Other
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allele num: 0
num of homozygotes: 0

East Asian
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 3.411e-1

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
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SIO_000300: 1.9393e4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: NaN
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BaseQRankSum
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SIO_000300: 7.36e-1

VQSLOD
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DP
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MQRankSum
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MQ
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QD
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FS
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ReadPosRankSum
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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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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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African
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Other
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East Asian
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FS
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SIO_000300: 0.0e0

VQSLOD
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MQ
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InbreedingCoeff
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QD
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DP
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SIO_000300: 1.5887e4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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East Asian
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allele frequency: NaN
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Other
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MQRankSum
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SIO_000300: 7.27e-1

InbreedingCoeff
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SIO_000300: 9.370000000000001e-2

QD
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ClippingRankSum
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MQ
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SIO_000300: 3.324e1

FS
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ReadPosRankSum
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VQSLOD
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DP
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SIO_000300: 2.0774e4

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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European (Non-Finnish)
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num of homozygotes: 0

Latino
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Other
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African
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South Asian
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European (Finnish)
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East Asian
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QD
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SIO_000300: 2.947e1

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.65e-2

DP
type: SiteQuality
SIO_000300: 3.2548e4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

MQ
type: SiteQuality
SIO_000300: 2.9e1

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

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

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

GenotypeQuality
all individuals: 1279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.3e1

VQSLOD
type: SiteQuality
SIO_000300: -3.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.64e-2

DP
type: SiteQuality
SIO_000300: 3.4654e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1