X-154292258-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292258
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292258
    reference: chr 0
allele count: 11
allele frequency: 1.258653241032096e-4
allele num: 87395
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.41T>C
  hgvsp: ENSP00000358491.1:p.Ile14Thr
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.41T>C
  hgvsp: ENSP00000358496.3:p.Ile14Thr
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*55T>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 9
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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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: 2.5e0
  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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  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
  all individuals: 1003
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 11
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile14Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-154292272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292272
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292272
    reference: chr 0
allele count: 8
allele frequency: 9.153422808041281e-5
allele num: 87399
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.27G>A
  hgvsp: ENST00000369479.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.27G>A
  hgvsp: ENST00000369484.3:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  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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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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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: 2701
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys9Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

X-154292281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292281
    reference: chr 0
allele count: 1
allele frequency: 1.144308780281271e-5
allele num: 87389
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.18G>A
  hgvsp: ENST00000369479.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.18G>A
  hgvsp: ENST00000369484.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  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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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: 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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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
  all individuals: 1248
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  variant carriers: 0
hgvs: p.Pro6Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-154292282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292282
    reference: chr 0
allele count: 1
allele frequency: 1.144479033144113e-5
allele num: 87376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.17C>T
  hgvsp: ENSP00000358491.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.17C>T
  hgvsp: ENSP00000358496.3:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3541
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
hgvs: p.Pro6Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

X-154292291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292291
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292291
    reference: chr 0
allele count: 2
allele frequency: 2.290924502583018e-5
allele num: 87301
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.8A>G
  hgvsp: ENSP00000358496.3:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.8A>G
  hgvsp: ENSP00000358491.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln3Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

X-154292293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292293
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292293
    reference: chr 0
allele count: 2
allele frequency: 2.291948385322363e-5
allele num: 87262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.6G>A
  hgvsp: ENST00000369484.3:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.6G>A
  hgvsp: ENST00000369479.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro2Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

X-154292294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292294
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292294
    reference: chr 0
allele count: 1
allele frequency: 1.14639458901754e-5
allele num: 87230
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.5C>T
  hgvsp: ENSP00000358496.3:p.Pro2Leu
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.5C>T
  hgvsp: ENSP00000358491.1:p.Pro2Leu
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  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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  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: 3608
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8306
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15695
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro2Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

X-154292304-GAAAACTAAAACAAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292304
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292289
    reference: chr 0
allele count: 1
allele frequency: 1.149848220034955e-5
allele num: 86968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15692
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 8.25e1
  variant carriers: 1
hgvs: c.-10-11_-7delTCTTGTTTTAGTTTT
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: GAAAACTAAAACAAGA
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

X-154292309-CTAAAACAAGAAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292309
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292295
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86755
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 0
hgvs: c.-10-15_-10-2delTTTTTCTTGTTTTA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: CTAAAACAAGAAAAA
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-154292310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292310
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292310
    reference: chr 0
allele count: 2
allele frequency: 2.307177629605703e-5
allele num: 86686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-2A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-2A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1369A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-2A>G
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15687
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 8.25e1
  variant carriers: 0
hgvs: c.-10-2A>G
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

X-154292311-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292311
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292311
    reference: chr 0
allele count: 2
allele frequency: 2.310909805190303e-5
allele num: 86546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-3T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-3T>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-3T>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1368T>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15677
  bin: 9.75e1
  variant carriers: 1
hgvs: c.-10-3T>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

X-154292311-AAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292311
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292307
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-7_*5-4delGTTT
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-7_-10-4delGTTT
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-7_-10-4delGTTT
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1364_*1367delGTTT
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 8.25e1
  variant carriers: 0
hgvs: c.-10-7_-10-4delGTTT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: AAAAC
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

X-154292312-AAACAAGAAAAATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292312
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292299
    reference: chr 0
allele count: 1
allele frequency: 1.155454902595152e-5
allele num: 86546
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 8.25e1
  variant carriers: 0
hgvs: c.-10-17_-10-5delCATTTTTCTTGTT
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: AAACAAGAAAAATG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-154292320-AAAATGATTTTTATTTTTCTTTTTTCCATAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292320
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292288
    reference: chr 0
allele count: 1
allele frequency: 1.158654570312953e-5
allele num: 86307
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: AAAATGATTTTTATTTTTCTTTTTTCCATAAAG
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

X-154292325-GATTTTTATTTTTCTTTTTTCCATAAAGACTTTAAAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292288
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86109
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: GATTTTTATTTTTCTTTTTTCCATAAAGACTTTAAAGC
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

X-154292343-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292343
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292343
    reference: chr 0
allele count: 5
allele frequency: 5.942335575574624e-5
allele num: 84142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-35A>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-35A>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-35A>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1336A>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15662
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-154292344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292344
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292344
    reference: chr 0
allele count: 41
allele frequency: 4.882289198232849e-4
allele num: 83977
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-36A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-36A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-36A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1335A>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.25e1
  variant carriers: 4
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: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 6.75e1
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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: 1201
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15673
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9612
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-154292346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292346
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292346
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 83587
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-38G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1333G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-38G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-38G>A
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  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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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: 2990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 4.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 15658
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

X-154292349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154292349
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154292349
    reference: chr 0
allele count: 27
allele frequency: 3.269042170644001e-4
allele num: 82593
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*1330T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358491
  ensembl transcript: ENST00000369479
  gene symbol: CMC4
  hgvsc: ENST00000369479.1:c.-10-41T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*5-41T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-41T>C
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1933
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2090
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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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genotype quality: GenotypeQuality
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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: 1
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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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: 4631
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

X-154293715-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293715
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293715
    reference: chr 0
allele count: 1
allele frequency: 1.181600122886413e-5
allele num: 84631
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.667-41C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*4+46C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.502-41C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*5-41C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1407C>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.*5-41C>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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: 7.25e1
  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
  all individuals: 9870
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-154293746-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293746
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293746
    reference: chr 0
allele count: 35
allele frequency: 4.10023312754068e-4
allele num: 85361
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*4+15T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*4+15T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.666+15T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.501+15T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.*4+15T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1438T>A
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 981
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18485
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 13358
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

X-154293748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293748
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293748
    reference: chr 0
allele count: 3
allele frequency: 3.512469265893924e-5
allele num: 85410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*4+13A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.666+13A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*4+13A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.*4+13A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1440A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.501+13A>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 502
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18719
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 3886
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11686
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
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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
  all individuals: 227
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genotype depth: GenotypeDepth
  all individuals: 395
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genotype quality: GenotypeQuality
  all individuals: 5422
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
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genotype quality: GenotypeQuality
  all individuals: 645
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 13351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

X-154293752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293752
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293752
    reference: chr 0
allele count: 1
allele frequency: 1.169084723569917e-5
allele num: 85537
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1444T>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.*4+9T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.501+9T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.*4+9T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.666+9T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.*4+9T>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 0
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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
  all individuals: 35
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genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-154293781-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293781
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293781
    reference: chr 0
allele count: 1
allele frequency: 1.15629661320722e-5
allele num: 86483
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000427132
  ensembl transcript: ENST00000504061
  gene symbol: MTCP1
  hgvsc: ENST00000504061.1:c.14T>G
  hgvsp: ENSP00000427132.1:p.Leu5Arg
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1473T>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.308T>G
  hgvsp: ENSP00000355058.2:p.Leu103Arg
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.481T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.308T>G
  hgvsp: ENSP00000358488.3:p.Leu103Arg
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.646T>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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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: 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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 322
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu103Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

X-154293851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293851
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293851
    reference: chr 0
allele count: 1
allele frequency: 1.148501205926266e-5
allele num: 87070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.450-39C>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.277-39C>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1543C>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.615-39C>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.277-39C>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

X-154293870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293870
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293870
    reference: chr 0
allele count: 1
allele frequency: 1.148171536827602e-5
allele num: 87095
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.614+24T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.276+24T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.276+24T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1562T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.449+24T>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3254
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
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genotype quality: GenotypeQuality
  all individuals: 3776
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genotype quality: GenotypeQuality
  all individuals: 6744
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genotype quality: GenotypeQuality
  all individuals: 13420
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
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genotype quality: GenotypeQuality
  all individuals: 25932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

X-154293887-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293887
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293887
    reference: chr 0
allele count: 1
allele frequency: 1.148131989253485e-5
allele num: 87098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1579A>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.276+7A>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.614+7A>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.276+7A>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.449+7A>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26054
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 103
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
hgvs: c.276+7A>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

X-154293920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293920
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293920
    reference: chr 0
allele count: 2
allele frequency: 2.295710464996155e-5
allele num: 87119
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.250T>C
  hgvsp: ENST00000362018.2:c.250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.423T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1612T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.588T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.250T>C
  hgvsp: ENST00000369476.3:c.250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu84Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-154293921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293921
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293921
    reference: chr 0
allele count: 2
allele frequency: 2.295710464996155e-5
allele num: 87119
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1613C>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.249C>T
  hgvsp: ENST00000369476.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.587C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.249C>T
  hgvsp: ENST00000362018.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.422C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg83Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

X-154293924-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293924
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293924
    reference: chr 0
allele count: 1
allele frequency: 1.147855232498077e-5
allele num: 87119
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.246T>C
  hgvsp: ENST00000362018.2:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.419T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1616T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.584T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.246T>C
  hgvsp: ENST00000369476.3:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26567
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser82Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS

X-154293926-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293926
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293926
    reference: chr 0
allele count: 1
allele frequency: 1.147855232498077e-5
allele num: 87119
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1618T>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.244T>G
  hgvsp: ENSP00000358488.3:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.582T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.244T>G
  hgvsp: ENSP00000355058.2:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.417T>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26600
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser82Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

X-154293928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293928
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293928
    reference: chr 0
allele count: 2
allele frequency: 2.295710464996155e-5
allele num: 87119
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1620A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.242A>G
  hgvsp: ENSP00000358488.3:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.242A>G
  hgvsp: ENSP00000355058.2:p.Asn81Ser
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.580A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.415A>G
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn81Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

X-154293944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293944
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293944
    reference: chr 0
allele count: 2
allele frequency: 2.295710464996155e-5
allele num: 87119
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.226C>T
  hgvsp: ENSP00000358488.3:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1636C>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.226C>T
  hgvsp: ENSP00000355058.2:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.564C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.399C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13419
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg76Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

X-154293950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293950
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293950
    reference: chr 0
allele count: 1
allele frequency: 1.147868408365665e-5
allele num: 87118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.393G>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.220G>T
  hgvsp: ENSP00000358488.3:p.Glu74Ter
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.220G>T
  hgvsp: ENSP00000355058.2:p.Glu74Ter
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.558G>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1642G>T
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu74Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

X-154293978-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154293978
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154293978
    reference: chr 0
allele count: 1
allele frequency: 1.147894761008311e-5
allele num: 87116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.192G>T
  hgvsp: ENSP00000358488.3:p.Gln64His
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.530G>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1670G>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.365G>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.192G>T
  hgvsp: ENSP00000355058.2:p.Gln64His
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln64His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-154294011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294011
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294011
    reference: chr 0
allele count: 1
allele frequency: 1.148633126579371e-5
allele num: 87060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.159C>T
  hgvsp: ENST00000369476.3:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.332C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.159C>T
  hgvsp: ENST00000362018.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.497C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1703C>T
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13421
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp53Asp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-154294043-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294043
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294043
    reference: chr 0
allele count: 1
allele frequency: 1.152923814794318e-5
allele num: 86736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.465C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.127C>A
  hgvsp: ENST00000362018.2:c.127C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1735C>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.127C>A
  hgvsp: ENST00000369476.3:c.127C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.300C>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25009
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg43Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

X-154294045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294045
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294045
    reference: chr 0
allele count: 1
allele frequency: 1.153016868636788e-5
allele num: 86729
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.463C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1737C>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.125C>T
  hgvsp: ENSP00000355058.2:p.Ala42Val
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.298C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.125C>T
  hgvsp: ENSP00000358488.3:p.Ala42Val
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala42Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

X-154294059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294059
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294059
    reference: chr 0
allele count: 3
allele frequency: 3.468568984056145e-5
allele num: 86491
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1751G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.111G>A
  hgvsp: ENST00000369476.3:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.284G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.449G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.111G>A
  hgvsp: ENST00000362018.2:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13417
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr37Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

X-154294060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294060
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294060
    reference: chr 0
allele count: 2
allele frequency: 2.31302115257844e-5
allele num: 86467
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.448C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.110C>T
  hgvsp: ENSP00000358488.3:p.Thr37Met
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.283C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.110C>T
  hgvsp: ENSP00000355058.2:p.Thr37Met
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1752C>T
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6412
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr37Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-154294068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294068
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294068
    reference: chr 0
allele count: 1
allele frequency: 1.158480074142725e-5
allele num: 86320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-4T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.106-4T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.106-4T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1760T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-4T>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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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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  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: 6.75e1
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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: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  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: 1.75e1
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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: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
hgvs: c.106-4T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-154294075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294075
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294075
    reference: chr 0
allele count: 1
allele frequency: 1.15975645114526e-5
allele num: 86225
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1767C>T
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-11C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.106-11C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-11C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.106-11C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2113
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS

X-154294094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294094
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294094
    reference: chr 0
allele count: 1
allele frequency: 1.164686699277894e-5
allele num: 85860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-30G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.106-30G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1786G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-30G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.106-30G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2112
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-154294104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294104
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294104
    reference: chr 0
allele count: 1
allele frequency: 1.165555503753089e-5
allele num: 85796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-40G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.106-40G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1796G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.106-40G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-40G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40
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  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

X-154294147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294147
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294147
    reference: chr 0
allele count: 7
allele frequency: 8.147208417230181e-5
allele num: 85919
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.105+34T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.105+34T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1839T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-83T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-83T>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-154294154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294154
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294154
    reference: chr 0
allele count: 5
allele frequency: 5.81767409389726e-5
allele num: 85945
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.105+27T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.105+27T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1846T>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-90T>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-90T>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29268
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-154294172-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294172
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294170
    reference: chr 0
allele count: 1
allele frequency: 1.162196085723583e-5
allele num: 86044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.105+7_105+8delGT
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-110_279-109delGT
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-110_444-109delGT
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1866_-10-1865delGT
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.105+7_105+8delGT
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7988
  bin: 6.75e1
  variant carriers: 0
hgvs: c.105+7_105+8delGT
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: AAC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-154294189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294189
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294189
    reference: chr 0
allele count: 5
allele frequency: 5.787304967822584e-5
allele num: 86396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.97G>C
  hgvsp: ENSP00000355058.2:p.Val33Leu
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.97G>C
  hgvsp: ENSP00000358488.3:p.Val33Leu
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1881G>C
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-125G>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-125G>C
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val33Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

X-154294192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294192
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294192
    reference: chr 0
allele count: 3
allele frequency: 3.468007629616785e-5
allele num: 86505
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-128G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-128G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.94G>A
  hgvsp: ENSP00000355058.2:p.Val32Ile
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.94G>A
  hgvsp: ENSP00000358488.3:p.Val32Ile
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1884G>A
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21708
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
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genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 31845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val32Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS

X-154294202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294202
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294202
    reference: chr 0
allele count: 1
allele frequency: 1.152963693173302e-5
allele num: 86733
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1894G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-138G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.84G>A
  hgvsp: ENST00000362018.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.84G>A
  hgvsp: ENST00000369476.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-138G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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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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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
  all individuals: 1251
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genotype quality: GenotypeQuality
  all individuals: 1926
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 69
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr28Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

X-154294231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294231
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294231
    reference: chr 0
allele count: 1
allele frequency: 1.152073732718894e-5
allele num: 86800
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.55G>A
  hgvsp: ENSP00000358488.3:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1923G>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.55G>A
  hgvsp: ENSP00000355058.2:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-167G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-167G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 27
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  variant carriers: 0
hgvs: p.Gly19Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

X-154294254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294254
    reference: chr 0
allele count: 1
allele frequency: 1.155094544488466e-5
allele num: 86573
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-190A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.32A>G
  hgvsp: ENSP00000358488.3:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1946A>G
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-190A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.32A>G
  hgvsp: ENSP00000355058.2:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10453
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21475
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 122
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp11Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

X-154294255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294255
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294255
    reference: chr 0
allele count: 1
allele frequency: 1.155561718551388e-5
allele num: 86538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.31G>A
  hgvsp: ENSP00000355058.2:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-191G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-191G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.31G>A
  hgvsp: ENSP00000358488.3:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1947G>A
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp11Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

X-154294256-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294256
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294256
    reference: chr 0
allele count: 7
allele frequency: 8.090427868056679e-5
allele num: 86522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.30C>A
  hgvsp: ENST00000362018.2:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-192C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-192C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1948C>A
  variant of: http://identifiers.org/hgnc/35428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.30C>A
  hgvsp: ENST00000369476.3:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro10Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

X-154294277-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154294277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154294277
    reference: chr 0
allele count: 34
allele frequency: 4.059459136767954e-4
allele num: 83755
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000358488
  ensembl transcript: ENST00000369476
  gene symbol: MTCP1
  hgvsc: ENST00000369476.3:c.9A>G
  hgvsp: ENST00000369476.3:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000482244
  gene symbol: MTCP1
  hgvsc: ENST00000482244.1:n.444-213A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-213A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.9A>G
  hgvsp: ENST00000362018.2:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182712
  ensembl protein: ENSP00000358496
  ensembl transcript: ENST00000369484
  gene symbol: CMC4
  hgvsc: ENST00000369484.3:c.-10-1969A>G
  variant of: http://identifiers.org/hgnc/35428
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20878
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 282
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29205
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Gly3Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS

X-154299764-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299764
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299764
    reference: chr 0
allele count: 1
allele frequency: 4.307745326096321e-5
allele num: 23214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-39A>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5432T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5700T>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-39A>T
  variant of: http://identifiers.org/hgnc/24185
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20748
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

X-154299773-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299773
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299773
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 23997
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-30C>G
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5441G>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5709G>C
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-30C>G
  variant of: http://identifiers.org/hgnc/24185
canonical: false
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21860
  bin: 2.5e0
  variant carriers: 0
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: 212
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
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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: 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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  bin: 3.25e1
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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: 1.75e1
  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
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.5e0
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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: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

X-154299773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299773
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299773
    reference: chr 0
allele count: 1
allele frequency: 4.167187565112306e-5
allele num: 23997
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-30C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5441G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5709G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-30C>T
  variant of: http://identifiers.org/hgnc/24185
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
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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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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 405
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

X-154299778-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299778
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299778
    reference: chr 0
allele count: 1
allele frequency: 3.986446083316723e-5
allele num: 25085
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-25C>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-25C>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5714G>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-25C>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-25C>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5446G>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 896
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

X-154299779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299779
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299779
    reference: chr 0
allele count: 1
allele frequency: 3.87131740931439e-5
allele num: 25831
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-24G>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-24G>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5715C>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-24G>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5447C>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  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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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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  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-154299781-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299781
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299781
    reference: chr 0
allele count: 1
allele frequency: 3.795066413662239e-5
allele num: 26350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5717T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-22A>C
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-22A>C
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-22A>C
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5449T>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-22A>C
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 212
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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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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  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: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 355
  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
  all individuals: 4838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

X-154299782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299782
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299782
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 26474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-21C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-21C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5450G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5718G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
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
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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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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

X-154299785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299785
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299785
    reference: chr 0
allele count: 2
allele frequency: 7.193468330755674e-5
allele num: 27803
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5453C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-18G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-18G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5721C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-18G>A
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

X-154299790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299790
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299790
    reference: chr 0
allele count: 2
allele frequency: 6.736274840013472e-5
allele num: 29690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5458C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-13G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-13G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-13G>A
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5726C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2087
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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 quality: GenotypeQuality
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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: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

X-154299794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299794
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299794
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 30968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-9C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5730G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5462G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28362
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-154299799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299799
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299799
    reference: chr 0
allele count: 1
allele frequency: 2.892012262131992e-5
allele num: 34578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.-4C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5467G>A
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5735G>A
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

X-154299804-T-TGGCGGTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299804
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299813
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 37372
alternate allele: TGGCGGTGCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000413170.1:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000328641.7:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000381998.1:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000358471.2:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000344103.4:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.5_13dupCGGTGCAGG
  hgvsp: ENSP00000358474.1:p.Ala2_Gln4dup
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Ala2_Gln4dup
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

X-154299807-C-CGGTGCAGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299807
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299816
    reference: chr 0
allele count: 2
allele frequency: 5.19588485919152e-5
allele num: 38492
alternate allele: CGGTGCAGGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.10_18dupTGGTGCAGG
  hgvsp: ENSP00000415152.1:p.Val4_Gln6dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000358474.1:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000381998.1:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000358471.2:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000328641.7:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000344103.4:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.14_22dupTGGTGCAGG
  hgvsp: ENSP00000413170.1:p.Val5_Gln7dup
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28621
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val5_Gln7dup
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

X-154299807-CGGTGCAGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299807
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299798
    reference: chr 0
allele count: 5
allele frequency: 1.29897121479788e-4
allele num: 38492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000328641.7:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.10_18delTGGTGCAGG
  hgvsp: ENSP00000415152.1:p.Val4_Gln6del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000344103.4:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000381998.1:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000413170.1:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000358471.2:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.14_22delTGGTGCAGG
  hgvsp: ENSP00000358474.1:p.Val5_Gln7del
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val5_Gln7del
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CGGTGCAGGT
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

X-154299808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299808
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299808
    reference: chr 0
allele count: 4
allele frequency: 1.02124183006536e-4
allele num: 39168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.2G>A
  hgvsp: ENST00000453705.1:c.2G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.6G>A
  hgvsp: ENST00000411985.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5476C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.6G>A
  hgvsp: ENST00000369462.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.6G>A
  hgvsp: ENST00000399042.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5744C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.6G>A
  hgvsp: ENST00000340647.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.6G>A
  hgvsp: ENST00000369459.2:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.6G>A
  hgvsp: ENST00000330045.7:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala2Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-154299811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299811
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299811
    reference: chr 0
allele count: 7
allele frequency: 1.697998787143723e-4
allele num: 41225
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.9G>A
  hgvsp: ENST00000330045.7:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.9G>A
  hgvsp: ENST00000340647.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.9G>A
  hgvsp: ENST00000411985.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.9G>A
  hgvsp: ENST00000399042.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.9G>A
  hgvsp: ENST00000369462.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5747C>T
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.5G>A
  hgvsp: ENST00000453705.1:c.5G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.9G>A
  hgvsp: ENST00000369459.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5479C>T
  variant of: http://identifiers.org/hgnc/7423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val3Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-154299816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299816
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299816
    reference: chr 0
allele count: 3
allele frequency: 6.75812664729337e-5
allele num: 44391
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.14T>C
  hgvsp: ENSP00000358471.2:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.14T>C
  hgvsp: ENSP00000381998.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  hgvsc: ENST00000476116.1:n.279-5752A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  hgvsc: ENST00000362018.2:c.-47-5484A>G
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.14T>C
  hgvsp: ENSP00000413170.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.14T>C
  hgvsp: ENSP00000344103.4:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.14T>C
  hgvsp: ENSP00000328641.7:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.14T>C
  hgvsp: ENSP00000358474.1:p.Val5Ala
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.10T>C
  hgvsp: ENSP00000415152.1:p.Val4Ala
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Val5Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-154299816-T-TGGTGCAGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299816
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299825
    reference: chr 0
allele count: 7
allele frequency: 1.576896217701786e-4
allele num: 44391
alternate allele: TGGTGCAGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000328641.7:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.23_31dupGCAGGCGGT
  hgvsp: ENSP00000415152.1:p.Gln9_Val11dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000358474.1:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000344103.4:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000358471.2:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000381998.1:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.27_35dupGCAGGCGGT
  hgvsp: ENSP00000413170.1:p.Gln10_Val12dup
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Gln10_Val12dup
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-154299816-TGGTGCAGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24154299816
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24154299807
    reference: chr 0
allele count: 21
allele frequency: 4.730688653105359e-4
allele num: 44391
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl transcript: ENST00000476116
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000415152
  ensembl transcript: ENST00000453705
  gene symbol: BRCC3
  hgvsc: ENST00000453705.1:c.23_31delGCAGGCGGT
  hgvsp: ENSP00000415152.1:p.Gln9_Val11del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358471
  ensembl transcript: ENST00000369459
  gene symbol: BRCC3
  hgvsc: ENST00000369459.2:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000358471.2:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000344103
  ensembl transcript: ENST00000340647
  gene symbol: BRCC3
  hgvsc: ENST00000340647.4:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000344103.4:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000358474
  ensembl transcript: ENST00000369462
  gene symbol: BRCC3
  hgvsc: ENST00000369462.1:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000358474.1:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000328641
  ensembl transcript: ENST00000330045
  gene symbol: BRCC3
  hgvsc: ENST00000330045.7:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000328641.7:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000381998
  ensembl transcript: ENST00000399042
  gene symbol: BRCC3
  hgvsc: ENST00000399042.1:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000381998.1:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214827
  ensembl protein: ENSP00000355058
  ensembl transcript: ENST00000362018
  gene symbol: MTCP1
  variant of: http://identifiers.org/hgnc/7423
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185515
  ensembl protein: ENSP00000413170
  ensembl transcript: ENST00000411985
  gene symbol: BRCC3
  hgvsc: ENST00000411985.1:c.27_35delGCAGGCGGT
  hgvsp: ENSP00000413170.1:p.Gln10_Val12del
  variant of: http://identifiers.org/hgnc/24185
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Gln10_Val12del
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TGGTGCAGGC

GenotypeQuality
all individuals: 2118
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.363201911589009e-4
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 4.520114509567576e-4
allele num: 6637
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 1.755e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.559e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.502276e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 8387
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 8
allele frequency: 8.58000858000858e-4
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.164e0

DP
type: SiteQuality
SIO_000300: 2.502229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.953e0

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.500561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
all individuals: 2118
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.090606903183994e-5
allele num: 47833
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10015
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.500093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.470000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 3.081e1

GenotypeQuality
all individuals: 23308
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47821
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8395
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.013863773357444e-4
allele num: 6636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.497148e6

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8383
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.091437654243527e-5
allele num: 47814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 2.495835e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.829e1

VQSLOD
type: SiteQuality
SIO_000300: -8.221000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47807
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8383
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.507159005275056e-4
allele num: 6635
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

DP
type: SiteQuality
SIO_000300: 2.49439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8351
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09494280806134e-5
allele num: 47734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.423e-1

DP
type: SiteQuality
SIO_000300: 2.482103e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.909e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
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MQRankSum
type: SiteQuality
SIO_000300: -3.38e0

QD
type: SiteQuality
SIO_000300: 3.1e0

VQSLOD
type: SiteQuality
SIO_000300: -4.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 2.469569e6

MQ
type: SiteQuality
SIO_000300: 5.399e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9631
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8305
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.197271773347324e-5
allele num: 47650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.046e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.467622e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 2682
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099693444757066e-5
allele num: 47626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8299
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.455457e6

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

QD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

FS
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8299
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

FS
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 2.455457e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 2.099781622711238e-5
allele num: 47624
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 9525
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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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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.102916745526045e-5
allele num: 47553
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South Asian
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6621
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4527
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South Asian
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Other
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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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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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Other
type: Population
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 2.154708037060978e-4
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 8.121567034986856e-4
allele num: 46789
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Other
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allele num: 605
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East Asian
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

DP
type: SiteQuality
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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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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 4892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8007
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6549
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46611
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.220032e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 2.384e1

VQSLOD
type: SiteQuality
SIO_000300: -2.214e-1

GenotypeQuality
all individuals: 1520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15664
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 3869
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 2.161928440168631e-4
allele num: 9251
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6503
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7707
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 3.157761778451434e-3
allele num: 7917
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46115
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.199351e6

QD
type: SiteQuality
SIO_000300: 1.881e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.335e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.553036185743128e-4
allele num: 6439
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.753243e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.236e0

QD
type: SiteQuality
SIO_000300: 1.137e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

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

GenotypeQuality
all individuals: 2220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21175
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 6.394815935881312e-4
allele num: 46913
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.390593047034765e-4
allele num: 7824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6507
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.509e-1

QD
type: SiteQuality
SIO_000300: 1.63e1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e0

DP
type: SiteQuality
SIO_000300: 1.845257e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

GenotypeQuality
all individuals: 2587
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20832
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.020304050607081e-4
allele num: 9801
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.535862386730149e-4
allele num: 6511
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.130061558779049e-5
allele num: 46947
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9221
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.122e0

DP
type: SiteQuality
SIO_000300: 1.849738e6

MQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.74e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7827
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9821
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.126483222047378e-5
allele num: 47026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

FS
type: SiteQuality
SIO_000300: 1.033e0

DP
type: SiteQuality
SIO_000300: 1.861288e6

QD
type: SiteQuality
SIO_000300: 3.03e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25250
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.268713524486171e-4
allele num: 7882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6579
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.916764e6

VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

GenotypeQuality
all individuals: 25897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084897006087899e-5
allele num: 47964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10111
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7919
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 3.259e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 1.9538e6

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6613
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47975
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.584e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 1.95461e6

QD
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: -4.265e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.302e0

GenotypeQuality
all individuals: 3787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13421
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.955372e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 3.155e1

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13417
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3088
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.167969157028238e-5
allele num: 47985
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -2.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.32e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

QD
type: SiteQuality
SIO_000300: 2.861e1

DP
type: SiteQuality
SIO_000300: 1.95872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 26516
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13418
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.569e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.959002e6

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1586
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47985
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.959271e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 3.388e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -1.172e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -3.983e-1

DP
type: SiteQuality
SIO_000300: 1.959503e6

QD
type: SiteQuality
SIO_000300: 1.689e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

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

FS
type: SiteQuality
SIO_000300: 5.629e0

DP
type: SiteQuality
SIO_000300: 1.959779e6

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 2.071e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.262626262626263e-4
allele num: 7920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08389772229979e-5
allele num: 47987
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.96021e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
all individuals: 26626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.960223e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.523e0

FS
type: SiteQuality
SIO_000300: 4.977e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.488e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
all individuals: 2896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08389772229979e-5
allele num: 47987
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.14e-2

DP
type: SiteQuality
SIO_000300: 1.9603e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.751e0

QD
type: SiteQuality
SIO_000300: 1.078e1

FS
type: SiteQuality
SIO_000300: 3.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10103
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47954
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.014e0

DP
type: SiteQuality
SIO_000300: 1.958894e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47833
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.264062697509797e-4
allele num: 7911
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9927
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.296e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.52e-2

QD
type: SiteQuality
SIO_000300: 1.666e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.941692e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.940502e6

QD
type: SiteQuality
SIO_000300: 2.884e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7901
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.280749502773997e-5
allele num: 47765
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9771
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7901
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.037205770690964e-4
allele num: 6585
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.835e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.921675e6

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

QD
type: SiteQuality
SIO_000300: 2.222e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13419
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.074460083807887e-4
allele num: 9307
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6575
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9685
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47713
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7897
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 1.907456e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.662e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.547e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 3681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13422
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6565
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7893
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097359424484574e-5
allele num: 47679
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.662e-1

QD
type: SiteQuality
SIO_000300: 3.212e1

DP
type: SiteQuality
SIO_000300: 1.902133e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1587
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19528
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9415
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.267266506146243e-4
allele num: 7891
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6545
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 8.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.887811e6

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7887
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.889105e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.774e1

FS
type: SiteQuality
SIO_000300: 8.423999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

GenotypeQuality
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6593
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.373455131649651e-4
allele num: 9305
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.195950907374384e-5
allele num: 47665
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 2.002e1

DP
type: SiteQuality
SIO_000300: 1.86885e6

GenotypeQuality
all individuals: 1250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6898
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.048657718120805e-4
allele num: 47680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7889
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9335
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6595
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

DP
type: SiteQuality
SIO_000300: 1.870837e6

FS
type: SiteQuality
SIO_000300: 5.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6891
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.096919625070771e-5
allele num: 47689
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6593
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.063e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

DP
type: SiteQuality
SIO_000300: 1.878609e6

QD
type: SiteQuality
SIO_000300: 2.975e1

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7883
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.297378599054577e-4
allele num: 9308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.094196980167955e-5
allele num: 47751
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6595
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.646e1

FS
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.897407e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6595
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092838307312377e-5
allele num: 47782
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.268230818008878e-4
allele num: 7885
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.581e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.739e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

DP
type: SiteQuality
SIO_000300: 1.900783e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 1.962e0

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

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6884
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.26806999746386e-4
allele num: 7886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47837
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.289e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 7.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 1.906757e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 1246
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10059
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7867
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.090606903183994e-5
allele num: 47833
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.59e-2

QD
type: SiteQuality
SIO_000300: 2.927e1

DP
type: SiteQuality
SIO_000300: 1.906968e6

VQSLOD
type: SiteQuality
SIO_000300: -1.071e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 3432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.275672917463962e-4
allele num: 7839
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47701
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6569
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9291
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -2.166e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 1.6088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 1.891022e6

GenotypeQuality
all individuals: 2551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097227465290885e-5
allele num: 47682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6569
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7833
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10025
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.889236e6

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 8.84e-1

GenotypeQuality
all individuals: 2552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.066260472201066e-3
allele num: 6565
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10023
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.194e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.889171e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 1185
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1770
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7330
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6625
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 2425
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.534683855125844e-4
allele num: 6516
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.439956480348157e-4
allele num: 7353
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 4.556994987305514e-4
allele num: 46083
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.941747572815534e-3
allele num: 4120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 575
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.396e0

DP
type: SiteQuality
SIO_000300: 1.872682e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.664e0

QD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: -3.047e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 7.518600000000001e1

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5708
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2565
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3871
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.718431614695894e-5
allele num: 12956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1011
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.893e-1

DP
type: SiteQuality
SIO_000300: 5.03554e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

FS
type: SiteQuality
SIO_000300: 3.68e0

GenotypeQuality
all individuals: 3047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1205
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1097
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3965
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 5.32705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

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

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17252
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.486150621350502e-5
allele num: 13358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3965
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1097
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1205
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.32705e5

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 3219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.192692224699705e-5
allele num: 13903
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1237
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1323
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1551
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.813e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 6.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.716e0

DP
type: SiteQuality
SIO_000300: 5.63121e5

GenotypeQuality
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21976
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14317
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.366863905325444e-4
allele num: 4225
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1583
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

DP
type: SiteQuality
SIO_000300: 5.73423e5

QD
type: SiteQuality
SIO_000300: 3.063e1

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.835269993164729e-5
allele num: 14630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1437
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1343
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.83729e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

QD
type: SiteQuality
SIO_000300: 2.695e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1881
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16203
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14673
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 227
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 5.9044e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
all individuals: 980
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.321003963011889e-3
allele num: 1514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1641
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 231
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3023
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

DP
type: SiteQuality
SIO_000300: 6.09596e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

VQSLOD
type: SiteQuality
SIO_000300: -2.633e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 13279
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1696
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6783
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1715
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1695
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.1767522855899e-4
allele num: 4594
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 3.121098626716604e-4
allele num: 3204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 2.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 6.40568e5

GenotypeQuality
all individuals: 1990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1765
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1839
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4701
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1919
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 6.65122e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

QD
type: SiteQuality
SIO_000300: 2.084e1

GenotypeQuality
all individuals: 27611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2411
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5053
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.217572785140353e-5
allele num: 19166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 263
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1893
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.05605e5

VQSLOD
type: SiteQuality
SIO_000300: -6.824e-1

QD
type: SiteQuality
SIO_000300: 3.038e1

MQ
type: SiteQuality
SIO_000300: 5.736e1

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 275
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5309
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.732e1

QD
type: SiteQuality
SIO_000300: 9.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.41778e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
all individuals: 8124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.728132387706856e-5
allele num: 21150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.240440699935191e-4
allele num: 3086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2605
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1999
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

QD
type: SiteQuality
SIO_000300: 5.2e0

MQ
type: SiteQuality
SIO_000300: 5.465e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 7.60864e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 1379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2605
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.240440699935191e-4
allele num: 3086
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 5.070993914807302e-4
allele num: 3944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21150
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.684598378776713e-4
allele num: 5428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1999
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

MQ
type: SiteQuality
SIO_000300: 5.465e1

FS
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 5.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

DP
type: SiteQuality
SIO_000300: 7.60864e5

GenotypeQuality
all individuals: 761
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 7861
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GenotypeQuality
all individuals: 1174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 344
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variant carriers: 0

GenotypeQuality
all individuals: 9812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.121495327102804e-3
allele num: 2675
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.653110604439067e-5
allele num: 21491
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3991
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 287
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3216
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 6.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

FS
type: SiteQuality
SIO_000300: 1.257e0

DP
type: SiteQuality
SIO_000300: 7.67327e5

VQSLOD
type: SiteQuality
SIO_000300: -6.405999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
all individuals: 11467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7304
bin: 7.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 4.75e1
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GenotypeQuality
all individuals: 1122
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 1478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26493
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variant carriers: 0

GenotypeQuality
all individuals: 2098
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variant carriers: 0

GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 1.238718810829942e-3
allele num: 5651
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2117
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22583
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.183e0

DP
type: SiteQuality
SIO_000300: 7.84602e5

QD
type: SiteQuality
SIO_000300: 1.826e1

GenotypeQuality
all individuals: 1095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3183
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.257297386565378e-5
allele num: 24221
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2195
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.256826901376664e-4
allele num: 4431
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 321
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.25239e5

MQ
type: SiteQuality
SIO_000300: 5.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 4.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 8.68e0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.41196333815726e-4
allele num: 4146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3183
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.128648693282689e-5
allele num: 24221
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 321
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2195
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4431
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 8.483203257550051e-4
allele num: 5894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.166e0

DP
type: SiteQuality
SIO_000300: 8.25239e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.26e-2

MQ
type: SiteQuality
SIO_000300: 5.362e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 8.68e0

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1982
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26549
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4431
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.41196333815726e-4
allele num: 4146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 8.257297386565377e-4
allele num: 24221
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0