7-48311571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311571
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311571
    reference: chr 7
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1527A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2308A>G
  hgvsp: ENSP00000411096.1:p.Ile770Val
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile770Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9702
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-48308686-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308686
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308686
    reference: chr 7
allele count: 1
allele frequency: 1.152153374657234e-5
allele num: 86794
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2115A>G
  hgvsp: ENSP00000411096.1:p.Ile705Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1334A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 199
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ile705Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 684
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-48308700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308700
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308700
    reference: chr 7
allele count: 1
allele frequency: 1.239648931422621e-5
allele num: 80668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+9T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+9T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12218
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

7-48308702-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308702
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308702
    reference: chr 7
allele count: 1
allele frequency: 1.253666975904521e-5
allele num: 79766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+11A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+11A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6756
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-48308724-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308724
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308724
    reference: chr 7
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+33A>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+33A>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6224
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-48308724-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308724
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308724
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 66674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+33A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+33A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 568
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

7-48308727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308727
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308727
    reference: chr 7
allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+36T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+36T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4522
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48308734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308734
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308734
    reference: chr 7
allele count: 1
allele frequency: 1.672632388853578e-5
allele num: 59786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+43C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+43C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 530
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/7-48308735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308735
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308735
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 58432
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+44A>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+44A>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 522
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-48308735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308735
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308735
    reference: chr 7
allele count: 1
allele frequency: 1.711391018619934e-5
allele num: 58432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+44A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+44A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
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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: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
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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: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 474
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.794043774668102e-4
  allele num: 5574
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-48308737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48308737
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48308737
    reference: chr 7
allele count: 5
allele frequency: 8.689305203155956e-5
allele num: 57542
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2120+46C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1339+46C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 313
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8865
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4068
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-48311341-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311340
    reference: chr 7
allele count: 8
allele frequency: 1.608363490148774e-3
allele num: 4974
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2121-42delA
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1340-42delA
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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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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  variant carriers: 10
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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2324
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: TA
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

7-48311342-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311342
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311343
    reference: chr 7
allele count: 2
allele frequency: 4.100041000410004e-4
allele num: 4878
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1340-35dupT
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2121-35dupT
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 124
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48311342-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311342
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311341
    reference: chr 7
allele count: 1
allele frequency: 2.050020500205002e-4
allele num: 4878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2121-35delT
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1340-35delT
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: AT
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

7-48311360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311360
    reference: chr 7
allele count: 1
allele frequency: 1.567398119122257e-4
allele num: 6380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2121-24A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1340-24A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 668
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-48311384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311384
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311384
    reference: chr 7
allele count: 1
allele frequency: 7.136739937196689e-5
allele num: 14012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1340G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2121G>A
  hgvsp: ENST00000435803.1:c.2121G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 244
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2121G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-48311385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311385
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311385
    reference: chr 7
allele count: 1
allele frequency: 6.983240223463687e-5
allele num: 14320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2122G>A
  hgvsp: ENSP00000411096.1:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1341G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4802
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala708Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-48311394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311394
    reference: chr 7
allele count: 1
allele frequency: 5.865790708587517e-5
allele num: 17048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1350T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2131T>C
  hgvsp: ENSP00000411096.1:p.Phe711Leu
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe711Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.257229067136032e-4
  allele num: 7954
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

7-48311402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311402
    reference: chr 7
allele count: 1
allele frequency: 5.17170045510964e-5
allele num: 19336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2139G>A
  hgvsp: ENST00000435803.1:c.2139G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1358G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
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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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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 958
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
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genotype quality: GenotypeQuality
  all individuals: 11138
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Lys713Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 468
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-48311405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311405
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311405
    reference: chr 7
allele count: 1
allele frequency: 4.864759680871765e-5
allele num: 20556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2142C>T
  hgvsp: ENST00000435803.1:c.2142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1361C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
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  variant carriers: 0
hgvs: p.His714His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 496
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48311411-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311411
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311411
    reference: chr 7
allele count: 1
allele frequency: 4.535970244035199e-5
allele num: 22046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1367A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2148A>T
  hgvsp: ENST00000435803.1:c.2148A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 365
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu716Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1722
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-48311412-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311412
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311412
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 22312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1368A>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2149A>C
  hgvsp: ENSP00000411096.1:p.Met717Leu
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met717Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 250
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

7-48311425-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311425
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311425
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 25812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2162A>T
  hgvsp: ENSP00000411096.1:p.Lys721Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1381A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27288
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys721Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1948
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

7-48311440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311440
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 32102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1396A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2177A>G
  hgvsp: ENSP00000411096.1:p.Glu726Gly
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Glu726Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 310
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-48311441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311441
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311441
    reference: chr 7
allele count: 1
allele frequency: 3.05008235222351e-5
allele num: 32786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1397G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2178G>A
  hgvsp: ENST00000435803.1:c.2178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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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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hgvs: p.Glu726Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8536
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-48311454-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311454
    reference: chr 7
allele count: 3
allele frequency: 6.975122064636131e-5
allele num: 43010
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2191A>C
  hgvsp: ENSP00000411096.1:p.Asn731His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1410A>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn731His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 396
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

7-48311455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311455
    reference: chr 7
allele count: 2
allele frequency: 4.571219601389651e-5
allele num: 43752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1411A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2192A>G
  hgvsp: ENSP00000411096.1:p.Asn731Ser
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2016
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34115
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
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  variant carriers: 0
hgvs: p.Asn731Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4426
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-48311463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311463
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311463
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 51440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1419T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2200T>C
  hgvsp: ENST00000435803.1:c.2200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32014
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu734Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3536
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

7-48311468-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311468
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311468
    reference: chr 7
allele count: 1
allele frequency: 1.70004420114923e-5
allele num: 58822
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2205A>T
  hgvsp: ENST00000435803.1:c.2205A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1424A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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 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: 28863
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser735Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.314770617873243e-5
  allele num: 30168
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-48311477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311477
    reference: chr 7
allele count: 1
allele frequency: 1.334472082844027e-5
allele num: 74936
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2214A>G
  hgvsp: ENST00000435803.1:c.2214A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1433A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu738Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6946
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

7-48311481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311481
    reference: chr 7
allele count: 12
allele frequency: 1.450782213410064e-4
allele num: 82714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2218T>C
  hgvsp: ENSP00000411096.1:p.Phe740Leu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1437T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32311
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Phe740Leu
num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 658
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-48311485-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311485
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311485
    reference: chr 7
allele count: 608
allele frequency: 6.697362913352867e-3
allele num: 90782
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2222A>C
  hgvsp: ENSP00000411096.1:p.Glu741Ala
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1441A>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36093
  bin: 2.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.75e1
  variant carriers: 582
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34919
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14633
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 233
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genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu741Ala
num of homozygotes: 17
population: Latino
  type: Population
  allele count: 2
  allele frequency: 2.452783909737552e-4
  allele num: 8154
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

7-48311486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311486
    reference: chr 7
allele count: 1
allele frequency: 1.080870749475778e-5
allele num: 92518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2223G>A
  hgvsp: ENST00000435803.1:c.2223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1442G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13803
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu741Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8396
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-48311486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311486
    reference: chr 7
allele count: 2
allele frequency: 2.161741498951555e-5
allele num: 92518
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2223G>T
  hgvsp: ENSP00000411096.1:p.Glu741Asp
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1442G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 5.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu741Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8396
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

7-48311492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311492
    reference: chr 7
allele count: 1
allele frequency: 9.849111610132765e-6
allele num: 101532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1448A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2229A>G
  hgvsp: ENST00000435803.1:c.2229A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu743Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.323861139592794e-5
  allele num: 13654
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-48311495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311495
    reference: chr 7
allele count: 1
allele frequency: 9.501368197020371e-6
allele num: 105248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1451G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2232G>A
  hgvsp: ENST00000435803.1:c.2232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 676
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genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu744Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7668
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS

7-48311533-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311533
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311533
    reference: chr 7
allele count: 22
allele frequency: 1.854443077026822e-4
allele num: 118634
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2270T>G
  hgvsp: ENSP00000411096.1:p.Phe757Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1489T>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47545
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe757Cys
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 12
  allele frequency: 1.064207165661582e-3
  allele num: 11276
  num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

7-48311534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311534
    reference: chr 7
allele count: 1
allele frequency: 8.426161546369167e-6
allele num: 118678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2271C>T
  hgvsp: ENST00000435803.1:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1490C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
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genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1427
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48553
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe757Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65682
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

7-48311539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311539
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311539
    reference: chr 7
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2276G>A
  hgvsp: ENSP00000411096.1:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1495G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 176
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser759Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11302
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

7-48311550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311550
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311550
    reference: chr 7
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1506C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2287C>T
  hgvsp: ENSP00000411096.1:p.Leu763Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu763Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6568
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

7-48311555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311555
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311555
    reference: chr 7
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2292A>G
  hgvsp: ENST00000435803.1:c.2292A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1511A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
hgvs: p.Thr764Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.03327133705311e-4
  allele num: 9678
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-48311558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311558
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311558
    reference: chr 7
allele count: 2
allele frequency: 1.677767897589047e-5
allele num: 119206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2295G>A
  hgvsp: ENST00000435803.1:c.2295G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1514G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
hgvs: p.Glu765Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.172882946281961e-4
  allele num: 8526
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

7-48311559-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311559
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311559
    reference: chr 7
allele count: 2
allele frequency: 1.677542735401184e-5
allele num: 119222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2296G>T
  hgvsp: ENSP00000411096.1:p.Asp766Tyr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1515G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp766Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9678
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

7-48311563-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311563
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311563
    reference: chr 7
allele count: 20658
allele frequency: 1.728355811385161e-1
allele num: 119524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1519T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2300T>G
  hgvsp: ENSP00000411096.1:p.Ile767Ser
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2274
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
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  variant carriers: 2788
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1430
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 56
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 9
hgvs: p.Ile767Ser
num of homozygotes: 1907
population: European (Non-Finnish)
  type: Population
  allele count: 9449
  allele frequency: 1.430149841077645e-1
  allele num: 66070
  num of homozygotes: 675
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

7-48311572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311572
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311572
    reference: chr 7
allele count: 17
allele frequency: 1.422522718524593e-4
allele num: 119506
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2309T>C
  hgvsp: ENSP00000411096.1:p.Ile770Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1528T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ile770Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9702
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-48311580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311580
    reference: chr 7
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2317C>G
  hgvsp: ENSP00000411096.1:p.Leu773Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1536C>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu773Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8514
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

7-48311580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311580
    reference: chr 7
allele count: 4
allele frequency: 3.348793597106643e-5
allele num: 119446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1536C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2317C>T
  hgvsp: ENST00000435803.1:c.2317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
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  variant carriers: 0
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  bin: 4.75e1
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu773Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66028
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-48311581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311581
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311581
    reference: chr 7
allele count: 2
allele frequency: 1.674565031733007e-5
allele num: 119434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1537T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2318T>C
  hgvsp: ENSP00000411096.1:p.Leu773Pro
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu773Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11400
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

7-48311581-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311581
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311581
    reference: chr 7
allele count: 1
allele frequency: 8.372825158665037e-6
allele num: 119434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1537T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2318T>G
  hgvsp: ENSP00000411096.1:p.Leu773Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu773Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11400
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-48311582-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311582
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311582
    reference: chr 7
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1538G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2319G>T
  hgvsp: ENST00000435803.1:c.2319G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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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  bin: 6.75e1
  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: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5045
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu773Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.768853034023149e-5
  allele num: 11404
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-48311584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311584
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311584
    reference: chr 7
allele count: 6
allele frequency: 5.025967498743508e-5
allele num: 119380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2321G>C
  hgvsp: ENSP00000411096.1:p.Trp774Ser
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1540G>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp774Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16344
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

7-48311585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311585
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311585
    reference: chr 7
allele count: 1
allele frequency: 8.375910880308233e-6
allele num: 119390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2322G>A
  hgvsp: ENSP00000411096.1:p.Trp774Ter
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1541G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp774Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11406
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

7-48311586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311586
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311586
    reference: chr 7
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1542A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2323A>G
  hgvsp: ENSP00000411096.1:p.Thr775Ala
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr775Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11406
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-48311591-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311591
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311591
    reference: chr 7
allele count: 2
allele frequency: 1.674733298722178e-5
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1547T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2328T>G
  hgvsp: ENSP00000411096.1:p.Asn776Lys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 42879
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn776Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65998
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-48311598-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311598
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311598
    reference: chr 7
allele count: 10
allele frequency: 8.376893177858196e-5
allele num: 119376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1554A>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2335A>C
  hgvsp: ENSP00000411096.1:p.Lys779Gln
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Lys779Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9686
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-48311602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311602
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311602
    reference: chr 7
allele count: 1202
allele frequency: 1.006835086778798e-2
allele num: 119384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2339G>A
  hgvsp: ENSP00000411096.1:p.Ser780Asn
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1558G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 34234
  bin: 2.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 9.75e1
  variant carriers: 1189
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42572
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Ser780Asn
num of homozygotes: 7
population: Latino
  type: Population
  allele count: 73
  allele frequency: 6.394533987386125e-3
  allele num: 11416
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-48311611-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311611
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311611
    reference: chr 7
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1567G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2348G>C
  hgvsp: ENSP00000411096.1:p.Arg783Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg783Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16388
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

7-48311614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311614
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311614
    reference: chr 7
allele count: 5
allele frequency: 4.18515108395413e-5
allele num: 119470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2351A>G
  hgvsp: ENSP00000411096.1:p.Asp784Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1570A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44946
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp784Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6568
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-48311633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311633
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311633
    reference: chr 7
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1589T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2370T>C
  hgvsp: ENST00000435803.1:c.2370T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46243
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala790Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66024
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-48311639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311639
    reference: chr 7
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1595A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2376A>G
  hgvsp: ENST00000435803.1:c.2376A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys792Lys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-48311641-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311641
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311641
    reference: chr 7
allele count: 48
allele frequency: 4.013713521197425e-4
allele num: 119590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2378T>G
  hgvsp: ENSP00000411096.1:p.Leu793Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1597T>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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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: 9.25e1
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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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  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1405
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu793Arg
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16448
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-48311645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311645
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311645
    reference: chr 7
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2382G>A
  hgvsp: ENST00000435803.1:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1601G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  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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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 366
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu794Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-48311650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311650
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311650
    reference: chr 7
allele count: 6
allele frequency: 5.016638517750539e-5
allele num: 119602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1606T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2387T>C
  hgvsp: ENSP00000411096.1:p.Phe796Ser
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 251
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe796Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8534
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48311653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311653
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311653
    reference: chr 7
allele count: 20
allele frequency: 1.672548462091689e-4
allele num: 119578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1609G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2390G>A
  hgvsp: ENSP00000411096.1:p.Gly797Asp
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly797Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

7-48311657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311657
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311657
    reference: chr 7
allele count: 5
allele frequency: 4.181860760764109e-5
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2394C>T
  hgvsp: ENST00000435803.1:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1613C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 502
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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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: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1406
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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: 331
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn798Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8536
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-48311658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311658
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311658
    reference: chr 7
allele count: 4959
allele frequency: 4.14826340092351e-2
allele num: 119544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2395G>A
  hgvsp: ENSP00000411096.1:p.Glu799Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1614G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32462
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  variant carriers: 95
genotype depth: GenotypeDepth
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  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 432
genotype depth: GenotypeDepth
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  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 500
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 2.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 338
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 519
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 7341
  bin: 9.75e1
  variant carriers: 4761
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: 267
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  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 7
hgvs: p.Glu799Lys
num of homozygotes: 157
population: South Asian
  type: Population
  allele count: 351
  allele frequency: 2.134257570229843e-2
  allele num: 16446
  num of homozygotes: 5
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-48311658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311658
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311658
    reference: chr 7
allele count: 3
allele frequency: 2.509536237703272e-5
allele num: 119544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1614G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2395G>C
  hgvsp: ENSP00000411096.1:p.Glu799Gln
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu799Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48311666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311666
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311666
    reference: chr 7
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1622T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2403T>C
  hgvsp: ENST00000435803.1:c.2403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
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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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  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 46348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile801Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11446
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-48311676-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311676
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311676
    reference: chr 7
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2413C>G
  hgvsp: ENSP00000411096.1:p.Gln805Glu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1632C>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln805Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65840
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

7-48311678-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311678
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311678
    reference: chr 7
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1634G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2415G>C
  hgvsp: ENSP00000411096.1:p.Gln805His
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln805His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16444
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-48311680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311680
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311680
    reference: chr 7
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1636C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2417C>T
  hgvsp: ENSP00000411096.1:p.Thr806Ile
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
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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hgvs: p.Thr806Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16444
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

7-48311681-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311681
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311681
    reference: chr 7
allele count: 1
allele frequency: 8.384619254439656e-6
allele num: 119266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1637T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2418T>G
  hgvsp: ENST00000435803.1:c.2418T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr806Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16446
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-48311684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311684
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311684
    reference: chr 7
allele count: 170
allele frequency: 1.425935245764134e-3
allele num: 119220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1640C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2421C>T
  hgvsp: ENST00000435803.1:c.2421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 32718
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 9.75e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu807Leu
num of homozygotes: 2
population: Other
  type: Population
  allele count: 2
  allele frequency: 2.242152466367713e-3
  allele num: 892
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

7-48311685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311685
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311685
    reference: chr 7
allele count: 3
allele frequency: 2.518172813806302e-5
allele num: 119134
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2422G>A
  hgvsp: ENSP00000411096.1:p.Gly808Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1641G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
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genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly808Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-48311691-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311691
    reference: chr 7
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1647C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2428C>A
  hgvsp: ENSP00000411096.1:p.His810Asn
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17530
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 617
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genotype quality: GenotypeQuality
  all individuals: 45393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His810Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.083465141744738e-5
  allele num: 16438
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
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: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

7-48311691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311691
    reference: chr 7
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1647C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2428C>T
  hgvsp: ENSP00000411096.1:p.His810Tyr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His810Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11416
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48311693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48311693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48311693
    reference: chr 7
allele count: 1
allele frequency: 8.401949252226517e-6
allele num: 119020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.2430C>T
  hgvsp: ENST00000435803.1:c.2430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000409268
  ensembl transcript: ENST00000417403
  gene symbol: ABCA13
  hgvsc: ENST00000417403.1:c.*1649C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45187
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His810His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9598
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.765e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.543228e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.295336787564767e-4
allele num: 7720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

FS
type: SiteQuality
SIO_000300: 8.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.847e-1

DP
type: SiteQuality
SIO_000300: 1.124423e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.404889013767912e-4
allele num: 7118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6856
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -5.282e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.025801e6

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358045651763818e-5
allele num: 42408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.821e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

FS
type: SiteQuality
SIO_000300: 4.286e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -9.176e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.199e0

DP
type: SiteQuality
SIO_000300: 1.012428e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.802820170602913e-5
allele num: 34466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

DP
type: SiteQuality
SIO_000300: 8.65591e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 8.65591e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.44e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.001200480192077e-5
allele num: 33320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.207e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 8.5247e5

FS
type: SiteQuality
SIO_000300: 3.854e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 1.835e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.279979008134348e-5
allele num: 30488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.27814e5

QD
type: SiteQuality
SIO_000300: 8.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.704e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 8.41e0

DP
type: SiteQuality
SIO_000300: 8.23111e5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 2.026e0

VQSLOD
type: SiteQuality
SIO_000300: -6.704e-1

DP
type: SiteQuality
SIO_000300: 8.23111e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.41e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.829051574270813e-4
allele num: 10354
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

DP
type: SiteQuality
SIO_000300: 8.21556e5

South Asian
type: Population
allele count: 6
allele frequency: 1.304347826086956e-2
allele num: 460
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.5625e-2
allele num: 128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.06e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

DP
type: SiteQuality
SIO_000300: 9.3175e4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.385964912280702e-4
allele num: 2280
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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African
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European (Finnish)
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East Asian
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DP
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BaseQRankSum
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MQ
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FS
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele num: 1236
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African
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Other
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Latino
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
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South Asian
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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FS
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ClippingRankSum
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QD
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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African
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FS
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

East Asian
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African
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Latino
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European (Finnish)
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South Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 2212
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1670
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 0.0e0

DP
type: SiteQuality
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African
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.649620587264929e-4
allele num: 6062
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Other
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

Latino
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allele frequency: 0.0e0
allele num: 540
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 4.145936981757877e-4
allele num: 2412
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Other
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South Asian
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allele frequency: 0.0e0
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FS
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MQ
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SIO_000300: 5.975e1

BaseQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 2428
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 546
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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DP
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African
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allele frequency: 0.0e0
allele num: 2704
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
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Latino
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East Asian
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1652
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2386
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South Asian
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Latino
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allele frequency: 0.0e0
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FS
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
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African
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allele frequency: 2.927400468384075e-4
allele num: 3416
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 322
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 1698
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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Latino
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African
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South Asian
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allele frequency: 3.233455486096141e-4
allele num: 9278
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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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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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Other
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allele frequency: 0.0e0
allele num: 398
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European (Non-Finnish)
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allele frequency: 9.320533134495293e-5
allele num: 21458
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Latino
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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South Asian
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African
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

DP
type: SiteQuality
SIO_000300: 7.79839e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.8e0

FS
type: SiteQuality
SIO_000300: 9.715999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.382e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

DP
type: SiteQuality
SIO_000300: 8.4221e5

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.521305027482225e-5
allele num: 39662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 9.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.75895e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.581849407936365e-4
allele num: 44252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.817695125387433e-4
allele num: 7098
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.483854942871336e-4
allele num: 12078
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 1.037236e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

QD
type: SiteQuality
SIO_000300: 1.553e1

South Asian
type: Population
allele count: 8
allele frequency: 6.281407035175879e-4
allele num: 12736
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.824858757062147e-3
allele num: 708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.450179679843188e-4
allele num: 48976
num of homozygotes: 0

East Asian
type: Population
allele count: 584
allele frequency: 8.724230654317298e-2
allele num: 6694
num of homozygotes: 17

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.113498e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12890
num of homozygotes: 0

East Asian
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: 722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.000640204865557e-5
allele num: 49984
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.483e0

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

DP
type: SiteQuality
SIO_000300: 1.128613e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.001280409731114e-5
allele num: 49984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.128613e6

FS
type: SiteQuality
SIO_000300: 6.483e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.124e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.554e0

FS
type: SiteQuality
SIO_000300: 6.633e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.204759e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.726400110489607e-5
allele num: 57924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

MQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.236861e6

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 5.517e0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.523043650431021e-4
allele num: 65658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

DP
type: SiteQuality
SIO_000300: 1.365715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

QD
type: SiteQuality
SIO_000300: 1.318e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.200396825396825e-5
allele num: 16128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.697e0

QD
type: SiteQuality
SIO_000300: 1.503e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 5.305e0

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 1.366428e6

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 3.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

MQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 1.369578e6

QD
type: SiteQuality
SIO_000300: 7.99e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

VQSLOD
type: SiteQuality
SIO_000300: -1.485e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

FS
type: SiteQuality
SIO_000300: 1.023e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 8.16e0

DP
type: SiteQuality
SIO_000300: 1.372841e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.276e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

QD
type: SiteQuality
SIO_000300: 9.35e0

FS
type: SiteQuality
SIO_000300: 5.658e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.374095e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 1.472e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.029e0

DP
type: SiteQuality
SIO_000300: 1.374838e6

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031864900100051e-5
allele num: 65966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.679e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.942e0

DP
type: SiteQuality
SIO_000300: 1.374891e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 3608
allele frequency: 2.206727828746177e-1
allele num: 16350
num of homozygotes: 401

African
type: Population
allele count: 1616
allele frequency: 1.663578340539428e-1
allele num: 9714
num of homozygotes: 135

Other
type: Population
allele count: 131
allele frequency: 1.478555304740406e-1
allele num: 886
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 1021
allele frequency: 1.554033485540335e-1
allele num: 6570
num of homozygotes: 83

East Asian
type: Population
allele count: 1927
allele frequency: 2.257497656982193e-1
allele num: 8536
num of homozygotes: 212

Latino
type: Population
allele count: 2906
allele frequency: 2.549570100017547e-1
allele num: 11398
num of homozygotes: 388

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.632e1

DP
type: SiteQuality
SIO_000300: 2.127988e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.57318439136621e-4
allele num: 66066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 1.542892e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.539071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.5056967572305e-4
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.268e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

DP
type: SiteQuality
SIO_000300: 1.539071e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029752166272799e-5
allele num: 66012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.462e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

FS
type: SiteQuality
SIO_000300: 2.093e0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 1.538028e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

FS
type: SiteQuality
SIO_000300: 2.093e0

DP
type: SiteQuality
SIO_000300: 1.538028e6

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.462e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 2.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.53841e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.093389106119851e-5
allele num: 65982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.669e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 1.538384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.694e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.537474e6

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.536557e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

QD
type: SiteQuality
SIO_000300: 2.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

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

East Asian
type: Population
allele count: 2
allele frequency: 2.351281448389372e-4
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 4.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 1.536886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.605e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.212709192335678e-4
allele num: 65968
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 1.537103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 704
allele frequency: 1.067054686552686e-2
allele num: 65976
num of homozygotes: 2

African
type: Population
allele count: 291
allele frequency: 3.006198347107438e-2
allele num: 9680
num of homozygotes: 5

South Asian
type: Population
allele count: 102
allele frequency: 6.233956729006234e-3
allele num: 16362
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.126126126126126e-2
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.349573690621194e-3
allele num: 6568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.456e0

DP
type: SiteQuality
SIO_000300: 1.571353e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.551817e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.487e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

South Asian
type: Population
allele count: 4
allele frequency: 2.44081034903588e-4
allele num: 16388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

DP
type: SiteQuality
SIO_000300: 1.554148e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.97e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.251e0

DP
type: SiteQuality
SIO_000300: 1.564305e6

VQSLOD
type: SiteQuality
SIO_000300: -1.552e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.129e0

QD
type: SiteQuality
SIO_000300: 1.317e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.56555e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.455e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.143e0

QD
type: SiteQuality
SIO_000300: 1.419e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

Latino
type: Population
allele count: 48
allele frequency: 4.195804195804196e-3
allele num: 11440
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

DP
type: SiteQuality
SIO_000300: 1.566718e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 9.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: -3.732e-1

FS
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.566568e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.087053977100624e-5
allele num: 66028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.566916e6

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 1.445e0

QD
type: SiteQuality
SIO_000300: 1.715e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.572052401746725e-3
allele num: 11450
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.097e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.843e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.567732e6

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030027573250917e-5
allele num: 66006
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.823486506199854e-4
allele num: 16452
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

FS
type: SiteQuality
SIO_000300: 1.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.568053e6

East Asian
type: Population
allele count: 234
allele frequency: 2.741330834114339e-2
allele num: 8536
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 738
allele frequency: 1.120218579234973e-1
allele num: 6588
num of homozygotes: 48

European (Non-Finnish)
type: Population
allele count: 3291
allele frequency: 4.987572744907857e-2
allele num: 65984
num of homozygotes: 90

Latino
type: Population
allele count: 214
allele frequency: 1.869648785601957e-2
allele num: 11446
num of homozygotes: 1

African
type: Population
allele count: 72
allele frequency: 7.462686567164179e-3
allele num: 9648
num of homozygotes: 1

Other
type: Population
allele count: 59
allele frequency: 6.584821428571429e-2
allele num: 896
num of homozygotes: 5

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 1.764582e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.86e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.764582e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 6.86e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -7.386e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 1.1598e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.593438e6

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.081e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.105e0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.590334e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.464e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 1.589387e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -8.935e-1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.588811e6

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.587e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 2.857e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.587744e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 78
allele frequency: 1.186131386861314e-2
allele num: 6576
num of homozygotes: 2

African
type: Population
allele count: 2
allele frequency: 2.080299563137092e-4
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824373631719776e-4
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.261820061418711e-3
allele num: 65778
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.355712603062426e-4
allele num: 8490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

DP
type: SiteQuality
SIO_000300: 1.593725e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.594e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.585993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.582836e6

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522116350573838e-5
allele num: 65698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.582836e6

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522904483430799e-5
allele num: 65664
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

QD
type: SiteQuality
SIO_000300: 1.992e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.71e-1